Amyotrophie de type Charcot-Marie-Tooth associée à une ataxie cérébelleuse autosomique récessive révélatrice d’une mutation du gène de l’aprataxine [Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia] - Archive ouverte HAL Access content directly
Journal Articles Revue Neurologique Year : 2005

Amyotrophie de type Charcot-Marie-Tooth associée à une ataxie cérébelleuse autosomique récessive révélatrice d’une mutation du gène de l’aprataxine [Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]

François Ochsner
  • Function : Author
Isabelle Le Ber
  • Function : Author
Gérard Said
  • Function : Author
Maria-Céu Moreira
  • Function : Author
Patrik Michel
  • Function : Author
Alexandra Dürr
  • Function : Author
Alexis Bricé
  • Function : Author
Thierry Kuntzer
  • Function : Author

Abstract

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.
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hal-04133422 , version 1 (19-06-2023)

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François Ochsner, Isabelle Le Ber, Gérard Said, Maria-Céu Moreira, Patrik Michel, et al.. Amyotrophie de type Charcot-Marie-Tooth associée à une ataxie cérébelleuse autosomique récessive révélatrice d’une mutation du gène de l’aprataxine [Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]. Revue Neurologique, 2005, 161 (3), pp.331-336. ⟨10.1016/s0035-3787(05)85041-6⟩. ⟨hal-04133422⟩
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