CMT 2B:Subtle central and peripheral nervous system abnormalities in a family wi

[Guest guest]

Neuromuscul Disord. 2007 Sep 5

Subtle central and peripheral nervous system abnormalities in a

family with centronuclear myopathy and a novel dynamin 2 gene

mutation.

Echaniz-Laguna A, Nicot AS, Carré S, Franques J, Tranchant C,

Dondaine N, Biancalana V, Mandel JL, Laporte J.

Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de

l'Hôpital, BP426, 67091 Strasbourg, France; INSERM U692, Laboratoire

de Signalisations Moléculaires et Neurodégénérescence, 67085

Strasbourg, France; Université Louis Pasteur, Faculté de Médecine,

UMRS692, 67085 Strasbourg, France.

Mutations in dynamin 2 (DNM2), an ubiquitously-expressed large

GTPase, cause autosomal dominant centronuclear myopathy (DNM2-CNM)

and AD Charcot-Marie-Tooth disease type 2B (DNM2-CMT2B). We report a

series of 5 patients from the same family who all presented with

dominant centronuclear myopathy, mild cognitive impairment, mild

axonal peripheral nerve involvement, and the novel E368Q mutation in

the DNM2 gene. This study suggests that the phenotypes of dynamin 2

related centronuclear myopathy and Charcot-Marie-Tooth disease

overlap and that DNM2 mutations may alter cerebral function. This

report extends the clinical knowledge of DNM2-centronuclear myopathy

and shows that the role of DNM2 mutations in the central nervous

system should be further studied.