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• Vol.47 No.1
• CLINICA NEUROL, 47: 37−41, 2007
• Vol.47 No.1 contents

Case Report

A patient with G_M2 gangliosidosis presenting with motor neuron disease symptom in his forties

Yuhei Takado, M.D.¹⁾*, Takashi Koide, M.D.¹⁾**, Kenjiro Yoshikawa, M.D.²⁾, Nobutada Amaya, M.S.³⁾, Yasuji Yoshida, M.D.⁴⁾ and Hideaki Ishiguro, M.D.¹⁾

¹⁾Department of Neurology, Akita Red Cross Hospital
²⁾Institute of Gastroenterology, Akita Red Cross Hospital
³⁾School of Health Sciences Medical Laboratory Science, Faculty of Medicine, Niigata University
⁴⁾Department of Pathology, Research Institute for Brain and Blood Vessels, Akita
*Department of Neurology, Brain Research Institute, Niigata University
**Department of Neurology, Hiratsuka City Hospital

Here, we report a Japanese man with adult Sandhoff disease who presented with a motor neuron disease phenotype with slow progression. At the age of 42, he noticed weakness in his legs. At the age of 46, he was admitted to our hospital. Neurological examination revealed muscle weakness and atrophy of the upper and lower extremities, and hyperreflexia of the upper extremities. Magnetic resonance imaging showed very mild cerebellar atrophy. We diagnosed him as having atypical amyotrophic lateral sclerosis. Because of the atypical course of motor neuron disease, hexosaminidase activity in peripheral leukocytes was indicated. Asseys of hexosaminidase A and hexosaminidase B showed low activities, and we found a membranous cytoplasmic body in the submucosal nerve, leading to the diagnosis of Sandhoff disease.
This is the second case of a Japanese adult with Sandhoff disease presenting with a motor neuron disease phenotype, and to our knowledge, this is the latest age of onset in Japan.

(CLINICA NEUROL, 47: 37−41, 2007)
key words: Sandhoff disease, G_M2 gangliosidosis, hexosaminidase, motor neuron disease

(Received: 27-Jun-06)