Hereditary sensory ataxic neuropathy associated with proximal muscle weakness in

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J Neurol Sci. 2010 Jan 16

Hereditary sensory ataxic neuropathy associated with proximal muscle weakness in

the lower extremities.

Murakami T, Fukai Y, Rikimaru M, Henmi S, Ohsawa Y, Sunada Y.

Division of Neurology, Department of Internal Medicine, Kawasaki Medical School,

Kurashiki, Japan.

We describe three patients from the same family with hereditary sensory ataxic

neuropathy followed by proximal muscle weakness in the lower extremities.

Sensory ataxic gait began as an initial symptom when patients were in their 50s.

Mild proximal weakness in the lower extremities appeared several years later.

Serum creatine kinase was mildly elevated. Nerve conduction studies revealed

sensory dominant axonal neuropathy, and short sensory evoked potentials showed

involvement of the sensory nerve axon, dorsal root ganglia and posterior

funiculus of the spinal cord. Needle electromyography showed fibrillation,

positive sharp waves, and multiple giant motor unit potentials, suggesting the

involvement of anterior horn motor neurons or the anterior root.

Autosomal recessive inheritance was considered, because of consanguinity. The

disorder described here may be a new clinical entity with unique clinical

manifestations.