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Important Points:

Table: Type of hereditary ataxias




Clinical features

Friedreich’s ataxia

Autosomal Recessive

(Harrison - 18th, ed, Pg- 3338)

8-16 yrs

Ataxia (earliest feature), nystagmus, dysarthria, spasticity, areflexia (Extensor planter with diminish DTR), proprioceptive impairment (Due to posterior column involvement), diabetes mellitus, optic atrophy, dilated cardiomyopathy, Pes cavus, meningomyocoel. Chair bound by age 20

Ataxia telangiectasia

Autosomal Recessive


Progressive ataxia, athetosis, telangiectases on conjunctivae, impaired DNA repair, immunodeficiency, tendency to malignancies.

Olivo-pontocerebellar atrophy

Autosomal dominant

Adult life

Slowly progressive ataxia, spasticity, dysarthria, extra-pyramidal features, optic atrophy, deafness, pyramidal signs.

Hereditary spastic paraplegia

Autosomal dominant

Adult life

Slowly progressive spasticity affecting legs>arms, extensor plantar responses, sensory signs minimal or absent.


Degeneration of spinal tract

Degeneration of peripheral nerves

Slight atrophy of the cerebrum & cerebellum may occur

Degeneration of posterior column

Degeneration of pyramidal tract

Degeneration of spinocerebellar tract

Peripheral nerves are extensively
involved with loss of large myelinated fibres

Optic atrophy occurs



Important Points:

Vitamin B12 deficiency does not produce myopathy.


Extra Edge  Hypocupric (Low serum copper) Myelopathy (Ref. Hari. 18th ed., Pg- 3374)


This myelopathy is virtually identical to subacute combined degeneration and probably explains many cases previously described with normal serum levels of B12.

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