Cerebellar ataxia with neuropathy and vestibular areflexia syndrome（CANVAS）の神経病理所見

Neuropathological Findings in Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome

CANVAS（cerebellar ataxia with neuropathy and vestibular areflexia syndrome）の中枢神経系ではプルキンエ細胞の脱落と脊髄後索の変性が特徴であり，末梢神経系では後根神経節，前庭神経節などにおける神経節細胞の脱落が主体となる。症例により，下オリーブ核，皮質脊髄路，顔面神経節などにも変性が見られる。病変分布の差が遺伝子異常の違いやその組合せの違いによるのか，今後の解析が必要である。本疾患に特徴的な異常蛋白質の凝集体（核内封入体など）は現時点で見つかっていない。

Abstract

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by neuropathological changes such as loss of Purkinje cells and degeneration of the posterior column of the spinal cord. In the peripheral nervous system, CANVAS is associated with loss of ganglion cells in the dorsal root and vestibular ganglia. Some patients may show degeneration of the inferior olivary nucleus, corticospinal tracts, and the facial and trigeminal ganglia. Further research is warranted to determine whether differences in lesion distribution are attributable to differences in genetic abnormalities and their combinations. To date, aggregates of abnormal proteins such as intranuclear inclusion bodies characteristic of this disease have not been identified in the nervous system.