[A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype].

Abstract excerpt

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...

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