Type 1A Study with late onset from Taipei

[Guest guest]

Abstract From Chang Gung Med J. 2004 Apr;27(4):300-6.

Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological,

pathological, and genetic study.

Hsieh SY, Kuo HC, Chu CC, Lin KP, Huang CC.

Department of Neurology, Chang Gung Memorial Hospital and University,

Taipei.

Various clinical manifestations, electrophysiological findings, and

sural nerve biopsies are reported in a Taiwanese family with type 1A

Charcot-Marie-Tooth disease (CMT-1A). In addition, molecular genetic

studies for duplication of the peripheral myelin protein 22 (PMP22) gene

were also performed. There were 3 patients (2 men and 1 woman) with ages

at onset ranging from 37 to 44 years. The onset of symptoms was

insidious, and the neurological manifestations included distal muscle

weakness and wasting, mild sensory loss, and hyporeflexia or areflexia.

The severity of clinical manifestations varied from mild to severe,

although with very prominent demyelinating polyneuropathy in

electrophysiological studies. The sural nerve biopsy study revealed

demyelination and an onion-bulb appearance. The molecular genetic

studies confirmed duplication of the PMP22 gene in chromosome

17p11.2-12. We conclude that the clinical presentations,

electrophysiological studies, and pathological studies as well as the

molecular genetic analysis remain important in the clinical diagnosis of

CMT-1A.