A pathogenetic classification of hereditary ataxias: Is the time ripe?

被引：24

作者：

De Michele, G

Coppola, G

Cocozza, S

Filla, A

机构：

[1] Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

[2] Univ Naples Federico II, CNR, CEOS, Naples, Italy

来源：

JOURNAL OF NEUROLOGY | 2004年 / 251卷 / 08期

关键词：

hereditary ataxias; classification; pathogenesis;

D O I：

10.1007/s00415-004-0484-2

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Harding's classification takes credits for defining the homogeneous phenotypes that have been essential for the genetic linkage studies and it is still useful for didactic purposes. The advances in pathogenetic knowledge make it now possible to modify Harding's classification. Five main pathogenetic mechanisms may be distinguished: 1) mitochondrial; 2) metabolic; 3) defective DNA repair; 4) abnormal protein folding and degradation; 5) channelopathies. The present attempt to classify ataxia disorders according to their pathogenetic mechanism is a work in progress, since the pathogenesis of several disorders is still unknown. A pathogenetic classification may be useful in clinical practice and when new therapeutic strategies become available.

引用

页码：913 / 922

页数：10

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