Tag Archives: Movement disorder

Glucose Transporter Type I Deficiency Syndrome GLUT1 DS

Clinical features: Seizures, developmental delay, spasticity, acquired microcephaly, and ataxia Dystonia Genetics: Autosomal dominant, de novo mutation SLC2A1 gene, Findings on investigations: CSF: low glucose, low glucose:serum ratio, low CSF lactate Erythrocyte glucose transporter activity: reduced uptake into erythrocytes Related articles: Approach to movement disorders, approach to ataxia, approach to dystonia, Epilepsy,

Niemann-Pick Disease

Diagnosis: A type of lysosomal storage disease Biochemical diagnosis: Fibroblast culture to test for impaired LDL-cholesterol trafficking. Filipin staining: accumulated free cholesterol. Impaired LDL-induced cholesterol ester formation. A variant biochemical form exists Genetics: Autosomal recessive Niemann-Pick disease type C: gene= NPC1 at 18q11 or NPC2 14q Clinical features: Type A: Infantile, severe, cherry red macula, … Continue reading Niemann-Pick Disease


Tremor is a neurological symptom and a neurological sign. It can be due to primary disorders of the nervous system or secondary nervous system dysfunction due to systemic disease. Tremors can also be physiologic and certain substances such a caffeine or circumstances such as anxiety can exaggerate physiological tremors.   Clinical features: Involuntary, rhythmic, alternating, … Continue reading Tremor

Familial Hyperekplexia

Synonyms: a.k.a. Familial startle disease Diagnosis: This is a clinical diagnosis Genetics: Autosomal dominant, autosomal recessive (frame shift) Glycine Receptor alpha subunit GLRA1 5q32 Clinical features: Infants: stiff (except when sleeping), excessive startle response Older patients: Sudden myoclonus or falling Spastic paraparesis in one family Precipitated by sudden stimuli Treatment: Responds to benzodiazepines Related articles: … Continue reading Familial Hyperekplexia

Benign Paroxysmal Torticollis

Diagnosis: This is a clinical diagnosis Clinical features: Attacks of torticollis The attacks usually last <1 week Recur every few days to every few months Improve by age 2 years, and resolve by age 3 Family history of migraine Often develop migraine later on in life Related articles: Approach to movement disorders, dystonia, genetic dystonia, … Continue reading Benign Paroxysmal Torticollis


Diagnosis: This syndrome a clinical diagnosis and has many underlying causes. Clinical features: Uncoordinated or inaccurate movement not due to paresis, sensory disturbances, increased tone or involuntary movements. A combination of any of the following features may occur: Gait: broad based, staggering & swaying, unsteady, Truncal ataxia: inability to sit or stand without support Dysmetria: … Continue reading Ataxia

Chorea, in general

Diagnosis: This is a clinical diagnosis with various underlying causes Clinical features: Involuntary, nonrhythmic, rapid, irregular, jerky, purposeless, unpredictable, non-sustained Investigations to consider: consider as appropriate Tests: for Wilson’s disease Tests: for Huntington’s disease Blood smear: increased acanthocytes (suggests neuroacanthocytosis) Uric acid in young: Lesch-Nyhan disease Related articles: Approach to movement disorders,


Myoclonus, as a symptom of movement disorders: Diagnosis: Clinical: Rapid, brief, involuntary, jerk, muscle contraction (positive myoclonus) or inhibition of tone (negative myoclonus) Myoclonus by EMG: bursts <75 msec is diagnostic Types of myoclonus: By location: Cortical Subcortical: Brain stem (e.g. opsolonus myoclonus syndrome, hemifacial spasm) Spinal Segmental By relation to action: Action Postural Reflex … Continue reading Myoclonus


Diagnosis: Clinical: Involuntary, nonrhythmic, rapid, explosive, purposeless, flinging/flailing movement of upper limb. Often this is triggered by attempt to move. Investigations to consider: MRI +DWI: infarct in subthalamic nucleus Treatment options: Chlorpromazine IV. P.O. Related articles: Approach to movement disorders,

Dystonia, in general

Diagnosis: This is a clinical diagnosis. There are many underlying causes Clinical features: Simultaneous contraction of agonist & antagonist muscles, involuntary, Decide on primary vs. secondary Assess for isolated dystonia or other features e.g. myoclonus, parkinsonism, peripheral neuropathy, etc Consider: EMG in atypical cases EEG: if necessary to distinguish from seizures Investigations to consider: consider … Continue reading Dystonia, in general

Wernicke Encephalopathy

Diagnosis: Clinical features lone or with MRI findings or low B1 levels +/-Response to thiamine treatment +/-B1 Thiamine: by functional transketolase assay, thiamine chromatography or urinary thiamine Clinical features: Triad: Confusion, ataxia, ophthalmoplegia Not all features are necessary. Occasionally hypothermia occurs. Findings on Investigations: MRI features: Hyperintense signals in the periaqueductal gray area, dorsal medial … Continue reading Wernicke Encephalopathy

Normal Pressure Hydrocephalus

Diagnosis: A combination of clinical features, response to high volume lumbar puncture spinal tap plus imaging Clinical features: Gait disorder, the first symptom: Marche a petis pas: wide-based slow shuffling gait Ignition failure: hesitation on starting to walk Magnetic foot: difficulty lifting foot of the ground Poor postural control Cognitive impairment: Apathy, memory impairment Urinary … Continue reading Normal Pressure Hydrocephalus

Vascular Parkinsonism

Diagnosis: Clinical features plus supportive MRI and poor response to dopamine agonists Clinical features: Lower body Parkinsonism. Variable cognitive & behavioural deficits. May accompany vascular dementia Findings on Imaging: MRI: multiple subcortical infarcts +/-subcortical leukoaraiosis Treatment: Supportive care Address vascular risk factors Related articles: Approach to movement disorders, Idiopathic Parkinson disease, vascular dementia, ischemic stroke,


Diagnosis: Clinical features: ataxia, loss of facial motor control, dementia, leg pain Pathology: PRNP gene chr. 20p codon 129 status: MM is a risk factor, Related articles: Approach to cognitive impairment, approach to movement disorders, Sporadic CJD,

Gerstmann–Sträussler–Scheinker Syndrome:

Diagnosis: Clinical features plus imaging Clinical features: 2-10 years, Progressive ataxia & dementia Truncal ataxia, dysesthesia and hyporeflexia of the lower legs, and mild dysarthria Supranuclear gaze palsy Pyramidal signs Pathology: Amyloid plaques: PrP positive Minimal spongiform (vacuolar) change PRNP gene (GSS102) chr. 20p mutation usually Pro102Leu, octapeptide repeats also occur. Findings on Investigations: EEG: … Continue reading Gerstmann–Sträussler–Scheinker Syndrome:

Fatal Familial Insomia

Diagnosis: Combination of clinical features and imaging Genetics: Autosomal dominant Clinical features: Insomnia, sympathetic over activity, impaired attention Ataxia, dysarthria, Memory loss Hormone abnormalities: increased cortisol, Polysomnography: reduced total sleep time, absent REM sleep, absent deep nonREM sleep, Findings on Investigations: MRI: Normal or cerebral or cerebellar atrophy PET: Decreased metabolism in the thalami CSF: … Continue reading Fatal Familial Insomia

Variant Creudtzfedt-Jakob Disease (vCJD)

Synonyms: New variant CJD, Diagnosis: Clinical +/-EEG +/-MRI +/-CSF findings +/-brain biopsy Clinical features: Abnormal movements (myoclonus, dystonia, chorea), ataxia, slurred speech, tremor, dementia, akinetic mutism Non-specific sensory symptoms Psychiatric symptoms: withdrawal, delusions, depression Findings on Investigations: MRI: Thalamic hyperintensities: bilateral pulvinar (posterior thalamus) a.k.a. ‘Pulvinar sign’. In some there is also bilateral dorsomedial nucleus … Continue reading Variant Creudtzfedt-Jakob Disease (vCJD)

Sporadic Creutzfeldt-Jakob Disease (sCJD)

Diagnosis: A type of transmissible spongiform encephalopathy TSE Clinical +/-EEG +/-MRI +/-CSF findings +/-brain biopsy Clinical features: Rapidly progressive, death usually <1 year Dementia (rapidly progressive), ataxia, myoclonus, rigidity, visual disturbances Focal cortical symptoms (aphasia, neglect, apraxia, acalculia) Akinetic mutism (late feature) Heidenhain variant: Visual symptoms: perception difficulties (colours & structures e.g. metamorphopsia/dysmorphopsia), optical hallucinations, … Continue reading Sporadic Creutzfeldt-Jakob Disease (sCJD)

Fahr disease

Synonyms: a.k.a. idiopathic basal ganglia calcification Diagnosis: A combination of clinical features, imaging and other testing Clinical features: 30-60 y.o. Progressive dystonia, dysphagia, neuropsychiatric symptoms, ataxia Genetics: Autosomal dominant Chr. 14q, Findings on investigations: CT: calcification in the globus pallidus, but also occurs in putamen, caudate, dentate, thalamus and cerebral white matter Serum calcium & … Continue reading Fahr disease


A group of disorders with the following general features Neuroacanthocytosis general features Neurologic symptoms +blood smear with increased acanthocytes (spiky appearing RBCs). Note: wet preparation with a 1:1 dilution with normal saline, i.e. one drop of blood with one drop of saline. Choreoacanthocytosis: Diagnosis: Clinical features: Chorea, orofaciolingual dyskinesia Dysphagia, dysarthria, Seizures Dementia Areflexia (peripheral … Continue reading Neuroacanthocytosis

Dentatorubropallidoluysian atrophy DRPLA

Diagnosis: Genetics: Autosomal dominant DRPLA gene chr. 12. CAG repeat expansion (normal repeat number is 6-35). Protein= atrophin-1 protein. Clinical features: Chorea, ataxia, dementia, myoclonus Pathology: Gross: diffuse brain atrophy, worse in pons and cerebellum. Atrophy & discolouration of the globus pallidus, dentate nucleus, subthalamus & pontine tegmentum. Microscopic: neuronal loss of dentate nucleus with … Continue reading Dentatorubropallidoluysian atrophy DRPLA

Hypoxanthine-guanine phosphoribosyltransferase HPRT deficiency

Synonyms: Hypoxanthine-guanine phosphoribosyltransferase HPRT deficiency a.k.a. Lesch-Nyhan disease Diagnosis: Genetics: X-linked Protein= hypoxanthine-guanine phosphoribosyltransferase HPRT Clinical features: Dystonia, athetosis, Self mutilation (lip & finger biting) Mental retardation (learning disability) Severe gout, renal failure Findings on investigations: Uric acid: high Related articles: Approach to movement disorders,

Hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2 NIBA2

Synonyms: Neuroferritinopathy a.k.a. Hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2 NIBA2 Diagnosis: Genetics: Autosomal dominant Genetic: gene = FTL1, ferritin light chain gene. 460InsA mutation Clinical features: Focal dystonia, chorea, Parkinsonism. Cognitive effects occur later on. Iron studies, etc: Ferritin: low in men & post menopausal women. Normal in premenopausal women Fe … Continue reading Hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2 NIBA2

Pantathenate kinase deficiency Associated Neurodegeneration

Synonysms: Pantathenate kinase associated neurodegeneration PKAN a.k.a. Pantathenate kinase PANK deficiency a.k.a. Pantathenate kinase PANK deficiency a.k.a. Neurodegeneration with brain iron accumulation type 1 NBIA1, formerly Hallervorden-Spatz disease, rare: Diagnosis: Genetics: Sporadic or autosomal recessive PANK2 gene Chr. 20p13. Protein= pantothenate kinase (involved in coenzyme A biosythesis, panthothenate= vitamin B5) Clinical features: Childhood onset usually … Continue reading Pantathenate kinase deficiency Associated Neurodegeneration

Chronic Carbon Monoxide CO poisoning

Diagnosis: A combination of clinical features, MRI findings and carboxyhemoglobin testing Clinical features: Symmetric Parkinson like symptoms Findings on investigations: MRI: bilateral globus pallidus necrosis & lesions in the putamen, patchy white matter demyelination= Grinker myelinopathy Carboxyhemoglobin: high Pathology: Acute, not movement disorder: Cerebral oedema, Cherry red colour Chronic: Pallidal necrosis: Bilateral, asymmetrical, gross necrosis, … Continue reading Chronic Carbon Monoxide CO poisoning

Opsoclonus Myoclonus

Synonyms: a.k.a. dancing eyes dancing feet syndrome Diagnosis: This is a clinical syndrome Clinical features: Age: 18 months to 6 years. Can occur in adults Opsoclonus: rapid, involuntary, repetitive disorganised congugate eye movements in all directions of gaze. Can be confirmed by oculography: absent intersaccadic interval Investigations to consider: MRI: neuroblastoma CT: lung cancer, Hodgkins … Continue reading Opsoclonus Myoclonus

Hemifacial Spasm

Diagnosis: Clinical features: Episodic unilateral twitching of the face. May lead to eye closure, but is distinguished from blepharospasm by being unilateral and often having an upgoing forhead muscle ipsilateral to the facial twitch A type of segmental myoclonus involving the muscles supplied by the facial nerve (cranial nerve VII) Investigations to consider: Consider if … Continue reading Hemifacial Spasm

Stiff Person Syndrome

Synonyms: formerly stiff man syndrome a.k.a. Moersch-Woltmann syndrome Diagnosis: Clinical  and electrophysiological features, supplemented by antibody tests Diagnosis by exclusion: Absence of any other neurologic disease or chronic pain syndromes that could explain stiffness and rigidity. This condition is often mis-diagnosed as psychogenic dystonia Clinical features: Rigidity: Insidious onset, Limbs and axial (trunk) muscles, most … Continue reading Stiff Person Syndrome

Metoclopramide induced Akathesia

Diagnosis: Clinical features: Akathesia: inability to remain still due to an inner sense of restlessness Treatment: Stop metoclopramide Diphendyramine Consider Midazolam Related articles: Approach to movement disorders,

Tardive Dyskinesia

Diagnosis: Hyperkinetic movements due to use of dopamine receptor blocking drugs Types: Orofacial stereotypy Dystonia Treatment: Stop the offending drug Consider: Valbenazine [KINECT3 RCT] Reserpine If tardive dystonia: Anticholinergics: trihexyphenidyl Botulinum toxin injection If dystonia: Diphenhydramine Benzatropine Consider deep brain stimulation DBS of globus pallidus interna GPi Related articles: Approach to movement disorders, References: Hauser … Continue reading Tardive Dyskinesia

Genetic Dystonia

These are a group of dystonias Oppenheim’s dystonia a.k.a. dystonia musculorum deformans 1 a.k.a. DYT1: Diagnosis: Genetics: Autosomal dominant Torsin A gene, chr. 9q34 Clinical features: <26 y.o. starts as a focal dystonia (usually foot) then generalises Lubag a.k.a. X-linked dystonia Parkinsonism a.k.a. DYT3: Diagnosis: X-linked, Xq13.1, TAF1 gene, protein= transcription factor, Adults, 30y.o. (large … Continue reading Genetic Dystonia

Paroxysmal Dyskinesia

Synonyms: a.k.a. paroxysmal dystonia General points: There are two subtypes: Kinesiogenic paroxysmal dystonia Non-Kinesiogenic paroxysmal dystonia Kinesiogenic paroxysmal dystonia: Diagnosis: Precipitated by sudden movements Lasts <5 minutes, recurs up to 100/day Treatment: Carbamazepine CBZ, Phenytoin PHT Non-kinesiogenic paroxysmal dystonia (formerly paroxysmal dystonic choreoathetosis, Mount–Reback syndrome): Diagnosis: This condition is DYT8 a form of genetic dystonia … Continue reading Paroxysmal Dyskinesia

Meige Syndrome

Diagnosis: This is a clinical diagnosis Clinical features: Blepharospasm +orofacial dyskinesia (includes tongue & jaw) Difficulty chewing Related articles: Approach to movement disorders,

Generalised Dystonia or Segmental Dystonia

Diagnosis: Clinical features: Segmental: to adjacent regions Mutifocal: nonadjacent regions Hemidystonia: ipsilateral arm & leg Generalised: leg +trunk +another region Trial of levodopa, 2 months long to rule out dopa responsive dystonia. Treatment: Trial of levodopa, 2 months long. This should be tried in all childhood onset dystonias Anticholinergics: e.g. Trihexyphenidyl Others: Clonazepam, Baclofen or … Continue reading Generalised Dystonia or Segmental Dystonia

Focal Dystonia

Diagnosis: Clinical Focal dystonia: i.e. dystonia involving 1 region Types: Blepharospasm: involuntary bilateral eye closure Oromandibular dystonia Spasmodic dysphonia Cervical dystonia: Spasmodic (intermittent) or sustained Torticollis: turned/rotated Retrocollis: extended Anterocollis: flexed Laterocollis: tilted Focal hand dystonia Task specific dystonia: Writers cramp (graphospasm), piano players cram, guitar players cramp, golf, running Investigations to consider: Consider: MRI … Continue reading Focal Dystonia

Tourette’s syndrome

Synonyms: Gilles de la Tourette’s syndrome Diagnosis: Clinical criteria: Onset < 21 y.o. Lasts >1 year. Multiple motor tics. At least 1 vocal tick. Fluctuating course. Corprolalia is not necessary for diagnosis Consider associated: Attention deficit hyperactivity disorder ADHD Obsessive compulsive disorder OCD Treatment: Educate patient, family members, teachers. Decide on if treatment is warranted … Continue reading Tourette’s syndrome

Anti-GAD antibodiy associated progressive cerebellar ataxia

Diagnosis: Clinical features plus anti-GAD antibodies Clinical features: Progressive ataxia Findings on investigations: Anti-GAD antibody: positive Related articles: Approach to movement disorders,

Paraneoplastic Cerebellar Degeneration

Diagnosis: A combination of clinical features, identification of underlying cancer and occasionally other tests Clinical features: Symmetric subacute progressive cerebellar ataxia with dysarthria & nystagmus Pathology: Histology: massive loss of Purkinje cells. Dentate nucleus: Pallor of myelin fleece (amiculum). Sometimes mononuclear perivascular infiltrates or microglial nodules Findings on investigations: Antibodies: anti-Yo a.k.a. anti-PCA-1 (ovarian & … Continue reading Paraneoplastic Cerebellar Degeneration

Fragile X Tremor Ataxia syndrome

Diagnosis: Genetic testing: expansion of CGG repeat on FMR1 gene on chr. X. 55-200 repeats = premutation range, associated with tremor/ataxia syndrome and premature ovarian failure >200 repeats = Fragile X syndrome Findings on investigations: MRI: T2 white matter hyperintensities in the middle cerebellar peduncles or brain stem. Cereberal white matter hyperintensities and atrophy may … Continue reading Fragile X Tremor Ataxia syndrome

Episodic Ataxia type 2

Genetics: Autosomal dominant Ca++ CANA1A chr. 19p13.1 Clinical features: 2nd decade. Paroxysmal cerebellar ataxia Lasts hours: Vertigo, diplopia, nystagmus Progressive signs Associated with absence seizures in some Findings on investigations: MRI: vermian atrophy Treatment: Responds to acetazolamide Related articles: Approach to movement disorders,

Episodic Ataxia type 1

Genetics: Autosomal dominant Kva1.1 KCNA1 chr. 12q13 Clinical features: Paroxysmal cerebellar ataxia, seconds-minutes Triggers: exertion, stress, startle Associated with: Myokymia/neuromyotonia Cramps Findings on investigations: Electrophysiology/Pathogenesis: EMG: spontaneous discharges (Myokymia/neuromyotonia) Treatment: Acetazolamide or Carbamazepine CBZ Related articles: Approach to movement disorders,

Spinocerebellar Ataxias

Synonyms: Spinocerebellar ataxias (SCAs) a.k.a. spinocerebellar degeneration, formerly olivopontocerebellar ataxia (OPCA) Spinocerebellar ataxias (SCAs) in General: This  is a group of disorders characterized by ataxia and other findings such as hypotonia. The various subtypes are outlined below Clinical features: Hypotonia and ataxia MRI: Atrophy of Cerebellum & pons SCA1: Diagnosis: Autosomal dominant CAG repeat, ataxin-1 … Continue reading Spinocerebellar Ataxias

Ataxia with Vitamin E Deficiency

Synonyms: Ataxia with vitamin E deficiency (AVED) Diagnosis: Genetic testing and vitamin E levels Genetics: Autosomal recessive Protein= alpha-tocopherol transfer protein Findings on investigations: Vitamin E levels: low Related articles: Approach to movement disorders,

Friedreich’s Ataxia

Diagnosis: Genetics: Autosomal recessive Frataxin gene chr. 9. Protein= Frataxin. GAA nucleotide repeat (normal repeat number is 6-27). Compound heterozygotes occur in 5%. Clinical features: Ataxia & dysarthria Areflexia, extensor plantars Hammer toes arched foot, scoliosis Pathology: Gross: atrophy of spinal cord. Grey discolouration of posterior & lateral aspects of the spinal cord. Small sensory … Continue reading Friedreich’s Ataxia

Gluten Ataxia

Synonyms: Gluten ataxia a.k.a. ataxia associated with Coeliac disease antibodies Diagnosis: A combination of clinical features and testing for coeliac disease Clinical features: Ataxia +Coeliac disease antibodies: anti-TTG (especially anti-TTG6), anti-Endomysial antibody +exclusion of other causes Findings on investigations: MRI: cerebellar atrophy, T2 white matter hyperintensities Related articles: Approach to movement disorders,

Acute Post-Infectious Cerebellitis

Diagnosis: This is diagnosed by a combination of clinical features, imaging finding and sometimes associated laboratory tests Clinical features: Prodrome e.g. Upper respiratory tract infection Then Headache Then cerebellar ataxia Then improvement Findings on investigations: MRI +GAD: Normal, Then cerebellar enhancement of folia & hemispheres, swelling of hemispheres, tonsillar ectopia Then mild cerebellar atrophy, resolution … Continue reading Acute Post-Infectious Cerebellitis

Progressive Ataxia and Palatal Tremor

Synonyms: PAPT= Progressive ataxia and palatal tremour Diagnosis: This is a diagnosis of exclusion Clinical features: Soft ear clicks heard by patient & examiner Symmetrical palatal tremour (levator veli palatini muscle) Ataxia Findings on investigations: MRI, MRA: Absence of lesion in dentato-rubro-olivary pathway (Guillain-Mollaret triangle) which lies in the brainstem tegmentum Hypertrophic olivary degeneration Atrophy of … Continue reading Progressive Ataxia and Palatal Tremor

Oculopalatal Tremor

Synonyms: OPT, formerly oculopalatal myoclonus a.k.a. palatal tremour formerly palatal myoclonus Diagnosis: Clinical diagnosis Clinical features: Soft ear clicks heard by patient & examiner. Oscillopsia Symmetrical palatal tremour (levator veli palatini muscle) +Ocular nystagmus: pendular (same speed in both phases), usually vertical (may be tosional) & sometimes horisontal. May be bilateral or unilateral i.e. dissociated. … Continue reading Oculopalatal Tremor

Rubral Tremor

Synonyms: Holmes tremor Diagnosis: This is a clinical diagnosis in the correct clinical context (damage to the midbrain) Clinical: Mainly unilateral tremor, low frequency (3–5 Hz) Occurs at rest, in posture and during movement Exacerbation by goal-directed movements. Disappears during sleep Findings on investigations: MRI: lesions in brain stem, cerebellum or thalamus Treatment: Consider Levetiracetam … Continue reading Rubral Tremor

Cerebellar Tremor

a.k.a. kinetic tremor Diagnosis: Clinical: Intension tremor due to cerebellar lesions, or lesions in the brainstem. Midbrain tremors (red nucleus, rubral tremors) occur at rest & intention. Treatment: None are satisfactory, try: Carbamazepine CBZ, buspirone, glutithimide, isoniazid Related articles: Approach to movement disorders,

Orthostatic Tremor

Diagnosis: Clinical plus neurophysiology Clinical: Tremor in the legs upon standing. Sometimes also involves the hands EMG: Rhythmic discharges High frequency discharges: 16-18 Hz Treatment: 1st line: Clonazepam 2nd line: Propranolol, primidone, Gabapentin GBP, phenobarbitone Related articles: Approach to movement disorders,

Wilson's disease

Synonyms: a.k.a. hepatolenticular degeneration: Diagnosis: Slit lamp examination: Kayser Fleischer rings Golden Brown Corneal deposits Neurological: wing-beathing tremor & facial dystonia (sardonic smile), cognitive deficits, neuorpsychiatirc symptoms Ceruloplasmin: low, <20 mg/dL 24 hr Urinary copper excretion: increased >100 micrograms MRI: T2: Increased signal (but variable) in striatum, Midbrain, Pons, dentate nucleus, white matter lesions T1: … Continue reading Wilson's disease

Neurofilament inclusion body disease NIBD

Diagnosis: A combination of clinical and MRI Clinical: Age <65yo Parkinsonism: Rigidity, bradykinesia, falls Dopamine resistant Cortical features: Hand clumsiness, apraxia, language dysfunction, Mute, MRI: Frontal atrophy, caudate atrophy, temporal atrophy, Pathology: Gross: frontal atrophy, caudate atrophy, Nigral pallor, Superficial Spongiosis in frontal lobes, Purkinje cell loss Intraneuronal inclusions (cytoplasmic) in frontal lobes, see below … Continue reading Neurofilament inclusion body disease NIBD

Argyrophilic grain disease AGD

Diagnosis: A debatable neurodegenerative condition. Considered a tauopathy. Pathology: Argyrophilic grains (silver staining grains by Gallyas silver iodide method) in neuropil of the cortex of elderly patients with cognitive symptoms. Shape: spindle shaped, rod-like, button-like or round bodies. Ballooned neurons (a nonspecific finding, silver negative) & coiled bodies in oligodendrocytes (a nonspecific finding) also occur. … Continue reading Argyrophilic grain disease AGD

Corticobasal Degeneration

Synonyms: a.k.a. Cortical basal ganglionic degeneration CBGD formerly corticodentatonigral degeneration with neuronal achromasia a.k.a. corticonigral degeneration: Diagnosis: Clinical: Cortical signs: apraxia, visuospatial impairment, executive dysfunction, language dysfunction, spared memory function. +Basal ganglia signs: asymmetric rigidity, dystonia, myoclonus, alien hand, Relative Sparing of memory Pathology: Gross: Perisagittal atrophy of frontal & parietal lobes. Substantia nigra pallor … Continue reading Corticobasal Degeneration

Progressive Supranuclear Palsy

Synonyms: a.k.a. PSP, a.k.a. -Richardson-Olszewski syndrome Diagnosis: Clinical: Symmetric parkinsonism, vertical gaze palsy, eyelid opening apraxia, axial rigidity (axial dystonia), retrocollis, dementia (executive dysfunction, impaired abstraction & planning, relatively preserved memory), pseudobulbar palsy, pseudobulbar affect, Clinically two syndromes: Richardson syndrome: postural instability with falls, supranuclear vertical gaze palsy, cognitive deficits/dementia. PSP-Parkinsonism: unilateral tremor, transient levodopa … Continue reading Progressive Supranuclear Palsy

Multiple System Atrophy

Synonyms: formerly Shy-Drager syndrome/Striatonigral degeneration, formerly included under olivopontocerebelar atrophy OPCA Diagnosis: This is based on clinical features supported by consistent investigations Clinical features: Parkinsonism +other features: Ataxia Early falls forward Autonomic failure: Othostatic hypotension, syncope Impotence, urinary retention, constipation Axial rigidity Laryngeal stridor Hypometric saccadic eye movements Coat hanger sign: a sensation of being … Continue reading Multiple System Atrophy

Post-Encephalitic Parkinsonism

Synonyms: Encephalitis lethargica a.k.a. postencephalitic parkinsonism a.k.a. Von Economo encephalitis: Diagnosis: Clinical: Prodrome: pharyngitis Subacute sleep disturbance (hypersomnolence, reversal of diurnal sleep pattern or insomnia), ophthalmoparesis, lethargy Followed by: Parkinsonism, dyskinesia, oculogyric crisis, neuropsychiatric symptoms and central respiratory abnormalities Pathology: Midbrain and basal ganglia: lymphocyte (predominantly plasma cell) infiltration Investigations to consider: CSF: Oligoclonal bands … Continue reading Post-Encephalitic Parkinsonism

Serotonin Syndrome

Diagnosis: Clinical features: Hyperthermia, muscle rigidity, abdominal cramping, hypertension, myoclonus, agitation, coma, life-threatening Investigations to consider: FBC, metabolic panel, creatinine, CK Treatment: Discontinue the drug Hyperthermia: Active cooling, entubation & muscle relaxants Lorazepam intravenously 5HT2 antagonist: cyproheptadine orally If severe: intensive care & observation Related articles: Approach to movement disorders, Neuroleptic malignant syndrome,

Neuroleptic Malignant Syndrome

Diagnosis: Clinical: Hyperpyrexia +autonomic instability + muscle rigidity +tachycardia +fluctuation of consciousness Investigations to consider: FBC: leukocytosis, LFTs: AST & ALT are high, U&E, creatinine Creatine kinase: high,, plasma myoglobin: high Urinalysis for myoglobin: myoglobinuria Treatment: Discontinuing the offending drug/drugs Cooling Dantrolene Dopamine agonist e.g. bromocriptine Related articles: Approach to movement disorders, Serotonin syndrome,

Post-Anoxic Myoclonus

Synonym: Lance-Adams myoclonus Diagnosis: This is a clinical diagnosis: Delayed action-induced myoclonus, this occurs in the recovery phase of anoxic brain injury This is different from generalized myoclonic status epilepticus which occurs soon after anoxic injury Treatment: Valproic acid Related articles: Approach to movement disorders,

Huntington Disease

Genetics: Autosomal dominant HD gene chr. 4p16.3, expansion of CAG trinucleotide repeat. Protein= huntingtin, mutation= expansion of polyglutamine segment. Norma repeat is <26 repeats, Hungtingtons disease if = or >36 repeats Genetic testing for CAG repeat expansion in the huntingin gene Clinical: Chorea, personality change, dementia Chorea: initially as fidgety movements, then it affects fingers, … Continue reading Huntington Disease

Diffuse Lewy Body Disease

Synonyms: Dementia with Lewy bodies, a.k.a. Lewy body dementia a.k.a. Diffuse Lewy body disease DLBD, formerly Lewy body varient of Alzheimers: Clinical features: Dementia: deficits in attention, executive function, visuospatial ability and later on in memory. This is a subcortical dementia i.e. cortical features are spared early in the disease Core features: Dementia that develops … Continue reading Diffuse Lewy Body Disease

Essential Tremor

Synonyms: Benign essential tremor Clinical features: Postural and action tremor, present during the following activities: Pouring water, using a spoon to drink water, drinking water, finger-to-nose maneuver, and drawing a spiral Head titubation may occur Findings on Investigations: MRI brain: usually normal DAT SPECT (123I-FP-CIT SPECT) “DaTscan”: Images presynaptic dopamine transporters Helps differentiate between PD … Continue reading Essential Tremor

Parkinson's Disease

Synonyms: Paralysis agitans: Clinical features: Triad of: Bradykinesia Rigidity. Tremor: this is not essential for the diagnosis Important characteristics: asymmetry, upper body is affected first, fluctuation in severity, postural instability later on BP & postural BP: to exclude Shy-Dragger syndrome Other clinical points: Re-emergent tremor: on testing for postural tremour, initially there is no tremour … Continue reading Parkinson's Disease