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J Clin Neuromuscul Dis. 2000 Sep;2(1):24-6. doi: 10.1097/00131402-200009000-00007.

Charcot-marie-tooth disease with cerebellar atrophy.

Journal of clinical neuromuscular disease

A Melberg, R Raininko, N Dahl, Y Olsson, E Stålberg

Affiliations

  1. From the Departments of Neuroscience *Neurology and paragraph sign;Clinical Neurophysiology Oncology Radiology,and clinical immunologydaggerRadiology;Pathology and genetics double daggerClinical genetics and paragraph sign;pathology uppsala university hospital uppsala Sweden.

PMID: 19078599 DOI: 10.1097/00131402-200009000-00007

Abstract

We report on, 1 36-year-old man of Swedish descent who had teenage onset of a progressive disorder with features of Charcot-Marie-Tooth disease (CMT) and cerebellar ataxia. Cognition was normal. The polyneuropathy was of axonal type. Magnetic resonance imaging of his brain showed cerebellar atrophy. Cerebellar atrophy and CMT has been reported in one French-Canadian family and in several Japanese families, Mental impairment was a feature of the disorder in the Japanese families. A disorder with CMT and cerebellar atrophy is rare in the western world.

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