aprataxin gene mutation presents with CMT like neuropathy + cerebellar ataxia

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Rev Neurol (Paris). 2005 Mar;161(3):331-6.

Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-

like neuropathy and cerebellar ataxia.

[Article in French]

Ochsner F, Le Ber I, Said G, Moreira MC, Michel P, Koenig M, Durr A,

Brice A, Kuntzer T.

Service de Neurologie, CHU Vaudois, Lausanne, Suisse.

BACKGROUND: Phenotype-genotype correlations, generally based on

predominant associated signs, are being increasingly used to

distinguish different types of autosomal recessive cerebellar ataxias

(ARCA).

Case reports. Two brothers developed signs of cerebellar ataxia with

peripheral axonal motor and sensory neuropathy, distal muscular

atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth

neuropathy. The examination also showed oculomotor apraxia. Sural

nerve biopsy revealed conspicuous reduction in the density of

myelinated fibres but preservation of unmyelinated nerve fibres.

Blood tests revealed low serum albumin and elevated cholesterol. A

homozygous W279X truncating mutation was identified in exon 6 of the

APTX gene, confirming the diagnosis of cerebellar ataxia with

oculomotor apraxia type 1 (AOA1).

CONCLUSIONS: These cases illustrate the presentation of AOA1 type of

ARCA and discuss the role of peripheral neuropathy in the

differential diagnostic of the ARCAs variants.