The chromosome 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA): A newly identified degenerative ataxia in Japan showing peculiar morphological changes of the Purkinje cell: The 50th Anniversary of Japanese Society of Neuropathology

Kinya Ishikawa; Hidehiro Mizusawa

doi:10.1111/j.1440-1789.2010.01142.x

The chromosome 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA): A newly identified degenerative ataxia in Japan showing peculiar morphological changes of the Purkinje cell: The 50th Anniversary of Japanese Society of Neuropathology

Neuropathology. 2010 Oct;30(5):490-4. doi: 10.1111/j.1440-1789.2010.01142.x.

Authors

Kinya Ishikawa¹, Hidehiro Mizusawa¹

Affiliation

¹ Department of Neurology and Neurological Sciences, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.

PMID: 20667009
DOI: 10.1111/j.1440-1789.2010.01142.x

Abstract

The chromosome 16q22.1-linked autosomal-dominant cerebellar ataxia (16q-ADCA) is a form of spinocerebellar ataxia (SCA) common in Japan. It is clinically characterized by late-onset purely cerebellar ataxia. The neuropathologic hallmark of 16q-ADCA is degeneration of Purkinje cells accompanied by an eosinophilic structure which we named "halo-like amorphous materials". By immunohistochemistry and electron microscopy, the structure has been so far found to contain two components: the somatic sprouts from the Purkinje cells and presynaptic terminals of unknown origin. As far as we are aware, this peculiar morphological change of Purkinje cells has not been previously described. Further investigations may disclose unique pathological processes in SCA.

Keywords: Purkinje cell; SCA31; cerebellar ataxia; presynaptic protein; somatic sprout.

MeSH terms

Aged
Aged, 80 and over
Cerebellar Ataxia / genetics*
Cerebellar Ataxia / pathology*
Cerebellum / pathology*
Chromosomes, Human, Pair 16 / genetics*
Genes, Dominant
Humans
Japan / epidemiology
Male
Purkinje Cells / pathology*