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April 1970

Optic Atrophy, Neural Deafness, and Distal Neurogenic Amyotrophy: Report of a Family With Two Affected Siblings

Author Affiliations

Fukuoka City, Japan
From the Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka City, Japan.

Arch Neurol. 1970;22(4):357-364. doi:10.1001/archneur.1970.00480220071010

BILATERAL optic atrophy1-9 and neurogenic deafness8-10 are rarely associated with Charcot-Marie-Tooth disease. However, familial occurrence of the triad of primary optic atrophy, acoustic involvement, and polyneuropathy was not clearly described until 1967, when Rosenberg and Chutorian9 described three men in two generations of the same family with this triad of deficits. They deduced that this disorder belongs in the spectrum of spinocerebellar degenerations, the closest member being Charcot-Marie-Tooth disease.

We recently found another family in which a 25-year-old man and his 15-year-old sister, have chronic progressive optic atrophy, neurogenic hearing deficit, and neurogenic distal amyotrophy. This paper describes the clinical features in these two siblings.

Report of Cases  CASE 1.—A 25-year-old man was admitted to the Neurological Institute, Kyushu University Hospital (KUH), in November 1968. Pregnancy, delivery, and neonatal period were uncomplicated. He walked at age 12 months. Mental and physical development seemed normal until