Tag Archives: Ataxia

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

Pelizaeus-Merzbacher-Like Disease

A type of leukodystrophy Genetics: heterogeneous Autosomal recessive, Protein= gap junction protein 12 a.k.a. connexin 46.6 (Cx 46.6), a.k.a. connexin 47 (Cx 47), Gene= GJA12 gene mutation Clinical features: First months of life: impaired motor development and nystagmus Later on: ataxia, dystonia, dysarthria, and progressive spasticity Spastic paraplegia: childhood onset, progressive and may occur without … Continue reading Pelizaeus-Merzbacher-Like Disease

Pelizaeus Merzbacher Disease PMD

Diagnosis: A type of leukodystrophy Genetics: X-linked recessive disease, Gene: PLP1 gene, rearrangements or mutations. Protein= proteolipid protein 1 Clinical features: First months of life: impaired motor development and nystagmus Later on: ataxia, dystonia, dysarthria, and progressive spasticity Spastic paraplegia: childhood onset, progressive and may occur without other features Findings on investigations: MRI: hypomyelination pattern, … Continue reading Pelizaeus Merzbacher Disease PMD

Anti-sulfatide Neuropathy

Synonyms: a.k.a. anti-chondroitin sulfate neuropathy: Diagnosis: The diagnosis is made based on clinical features supported by electrodiagnostic tests and antibodies Clinical features: Polyneuropathy (sensory, or sensorimotor, sensory>motor), ataxia may occur, Findings on investigations: Anti-sulfatide antibody (a.k.a. anti-chondroitin sulfate): positive, > 1:1000 titre SPEP +IFE: usually have monoclonal IgM NCS/EMG: Mainly demyelinating pattern with secondary axonal … Continue reading Anti-sulfatide Neuropathy


Diagnosis: This is a clinical finding on examination. The corresponding symptom is oscillopsia, although it is often absent. Nystagmus is common in disorders that cause vertigo or ataxia. Investigations to consider: Down beat, MRI: cervicomedullary lesions, Chiari Malformation, Multiple sclerosis, brainstem tumor, brainstem stroke, spinocerebellar degeneration Convergence-Retraction: MRI: dorsal midbrain lesions Ocular bobbing, MRI: pontine … Continue reading Nystagmus


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

Leukoencephalopathy (white matter disease)

Damage to white matter may occur due to may conditions that can affect the brain. The clinical features, prognosis and treatment are related to the underlying condition Clinical features: There is a wide range of symptoms: Rapidly progressive dementia/subacute encephalopathy, lower body parkinsonism/gait apraxia, behavioural changes, pseudobulbar speech and pseudobulbar affect may occur Later on … Continue reading Leukoencephalopathy (white matter disease)

JC virus Granule Cell Neuronopathy (JCV GCN)

Diagnosis: Clinical features plus MRI and evidence of JC virus infection Clinical features: ataxia Findings on Investigations: MRI: Cerebellar atrophy with or without features of PML CSF: JC virus positive Pathology, biopsy: Cerebellum: focal Internal granule cell layer loss, some enlarged granule cell neurons Special studies: Immunohistochemistry for polyomavirus: positive In situ hybridization ISH for … Continue reading JC virus Granule Cell Neuronopathy (JCV GCN)

Biotin-Responsive Encephalopathy

Diagnosis: Clinical features, laboratory testing and MRI Clinical features: Ophthalmoplegia, nystagmus, ataxia, diplopia and ptosis Complex partial seizures with status epilepticus. Thiamine-responsive Genetics: Thiamine-Transporter Gene Findings on Investigations: MRI: High-intensity signals in the bilateral medial thalamus Laboratory: Thiamine levels: normal Treatment: Thiamine Related articles: Approach to cognitive impairment, approach to acute confusion, approach to diplopia, … Continue reading Biotin-Responsive Encephalopathy

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

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