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Atypical Spinocerebellar Degeneration in a Jewish Sibship

Isabelle Rapin, MD; Kinuko Suzuki, MD; Kunihiko Suzuki, MD; Marius P. Valsamis, MD

Arch Neurol. 1976;33(2):120-130.

Abstract
• Two adult Ashkenazi Jewish siblings have had slowly progressive deterioration of gait and posture since early childhood, distal to proximal muscle atrophy, pes cavus, foot drop, spasticity, mild ataxia of limbs and trunk, dystonic features, and dysarthria. Vision and optic fundi are normal, verbal intelligence is stable, and no seizures have occurred. The sister of the patients died at 16 years of age with the same illness. Autopsy showed diffuse neuronal storage, predominating in subcortical areas, consisting of membranocytoplasmic bodies, zebra bodies, and complex lamellar structures. G_M2 ganglioside was increased in her brain. Hexosaminidase A was decreased in serum and leukocytes of the living patients, and was in the range for carriers of Tay-Sachs disease in their parents. The disease found in this family represents a new, more indolent variant of G_M2gangliosidosis.

Author Affiliations
From the Saul R. Korey Department of Neurology (Drs Rapin and Kunihiko Suzuki), the Department of Pathology (Neuropathology) (Drs Kinuko Suzuki and Valsamis), and the Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY.

Footnotes
Accepted for publication Dec 10, 1974.

Reprint requests to Room 341, Kennedy Center, Albert Einstein College of Medicine, Bronx, NY 10461 (Dr Rapin).

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