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- CLINICA NEUROL, 50: 7－11, 2010
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Case Report
A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype
Tomoko Ishikawa, M.D.1), Kimiko Sato, M.D.1), Rie Shimazaki, M.D.1), Katsumasa Goto, M.D.1), Takao Matsuda, M.D.2) and Hiroyuki Ishiura, M.D.3)
1)Department of Neurology, Nishibeppu National Hospital
2)Department of Clinical Research, Nishibeppu National Hospital
3)Department of Neurology, Graduate School of Medicine, The University of Tokyo
A 50-year old woman, who had consanguineous parents, developed gait disturbance at age 3, and revealed nystagmus, cerebellar ataxia, peripheral neuropathy, and spastic tetraparesis. She admitted to our hospital at age 14, and the symptoms progressed very slowly. MRI of this case at age 45 showed a remarkable, diffuse hypomyelination of the cerebrum. Her older sister who already deceased at age 16 showed neurological symptoms similar to this case. The patient was found to have no proteolipid protein-1 gene duplications and deletions and base substitution. Her symptoms were considered to be different from those of typical HLD2, 3, 4 and 5. She carried no GJA12 mutations. These facts suggested that this disease is a novel, autosomal recessive hypomyelinating leukodystrophy.
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(CLINICA NEUROL, 50: 7－11, 2010)
key words: hypomyelinating leukodystrophy, Pelizaeus-Merzbacher like disease, GJA12, leukodystrophy
(Received: 14-Apr-08)
