CMT 2A:Two spanish families clinical, electrophysiological and molecular finding

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Neuromuscul Disord. 2008 Nov 7.

Two spanish families with Charcot-Marie-Tooth type 2A: Clinical,

electrophysiological and molecular findings.

Banchs I, Casasnovas C, Montero J, Martínez-Matos JA, Volpini V.

Molecular Diagnosis Center of Inherited Diseases, Institut

d'Investigacions Biomèdiques de Bellvitge (IDIBELL), L'Hospitalet de

Llobregat, Barcelona, Spain.

Mutations in the Mitofusin 2 (MFN2) gene have been related to the

axonal type of Charcot-Marie-Tooth type 2 (CMT 2A).

We report the first two Spanish families with CMT 2 and mutations in

MFN2 gene.

Molecular studies of one family with late onset revealed the novel

mutation Arg364Gln. The affected family members presented mild

clinical and electrophysiological worsening after 14 years of follow-

up. The other family presented an early onset and optic atrophy.

Molecular studies revealed the Arg94Gln mutation.

This is the first report of a family in which this mutation is

related to optic atrophy. Molecular analysis aimed at detecting

mutations of MFN2 could be extremely useful in mild axonal

neuropathies with slow evolution and indispensable in cases of

dominant inheritance or optic atrophy. Population studies of

mutations in MFN2 should be undertaken to discover the real

frequencies in the Mediterranean area.