Autosomal-recessive Charcot-Marie-Tooth diseases

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J Neuropathol Exp Neurol. 2005 May;64(5):363-70.

Autosomal-recessive Charcot-Marie-Tooth diseases.

Vallat JM, Tazir M, Magdelaine C, Sturtz F, Grid D.

Neurology Department, University Hospital, 2 Avenue Luther

King, 87042 Limoges, France.

In certain countries around the Mediterranean basin such as Algeria,

which have a high prevalence of consanguineous marriages, autosomal-

recessive (AR) inheritance may account for more than 50% of all forms

of Charcot-Marie-Tooth (CMT) disease. Like with the dominant forms,

it is usual to differentiate the demyelinating forms (CMT 4

corresponding to autosomal-recessive CMT 1 [AR-CMT 1] from the axonal

forms [AR-CMT 2]). Genetic analysis of large families with recessive

transmission has uncovered novel CMT genotypes (genes: GDAP 1, MTMR

2, MTMR 13, KIAA1985, NDGR1, periaxi, lamin). The clinical and

especially the histologic phenotypes often indicate that a specific

gene is implicated. We present and discuss microscopic lesions seen

on nerve biopsies from patients in a number of consanguineous

Algerian families, and we outline the characteristic lesions that

would prompt a search for mutations in genes such as MTMR 2, MTMR 13,

KIAA1985, periaxin for CMT 4, and lamin for AR-CMT 2. Like with the

dominant forms, there are undoubtedly many more mutations of other

genes to be discovered.