Details

Autor(en) / Beteiligte

• Citrigno, L.
• Zoccolella, S.
• Lastella, P.
• Simone, I. L.
• Muglia, M.

Titel

A 71‐nucleotide deletion in the periaxin gene in an Italian patient with late‐onset slowly progressive demyelinating Charcot‐Marie‐Tooth disease

Ist Teil von

• European journal of neurology, 2020-10, Vol.27 (10), p.2109-2110

Ort / Verlag

England: John Wiley & Sons, Inc

Erscheinungsjahr

2020

Quelle

Wiley Online Library

Beschreibungen/Notizen

• Background Charcot‐Marie‐Tooth disease (CMT) constitutes a group of heterogeneous hereditary motor and sensor neuropathies. Mutations in the periaxin (PRX) gene cause CMT4F with an autosomal recessive early‐onset demyelinating neuropathy and are extremely rare in a non‐Romani white population. Methods We report on a 66‐year‐old Italian man presenting with slowly progressive and late‐onset demyelinating CMT. The molecular analysis was performed using a custom panel containing 39 genes associated with the CMT phenotype. Results The patient harbored a homozygous PRX 71‐nucleotide deletion (c.3286_3356del71, I1096fsX17). Conclusions This is the first report that describes such a genetic mutation in a population of non‐Romani origin.