This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (46)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Report of a Family With Two Affected Siblings

Hiroshi Iwashita, MD; Naohide Inoue, MD; Shukuro Araki, MD; Yoshigoro Kuroiwa, MD

Arch Neurol. 1970;22(4):357-364.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

BILATERAL optic atrophy^1-9 and neurogenic deafness^8-10 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 . . . [Full Text PDF of this Article]

Author Affiliations
Fukuoka City, Japan

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

Footnotes
Submitted for publication June 24, 1969; accepted Sept 3.

Reprint requests to Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka City, Japan (Dr. Iwashita).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?