Brusse E, Maat-Kievit J A, van Swieten J C
Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.
Clin Genet. 2007 Jan;71(1):12-24. doi: 10.1111/j.1399-0004.2006.00722.x.
Cerebellar ataxias represent a heterogeneous group of neurodegenerative disorders. Two main categories are distinguished: hereditary and sporadic ataxias. Sporadic ataxias may be symptomatic or idiopathic. The clinical classification of hereditary ataxias is nowadays being replaced by an expanding genotype-based classification. A large spectrum of degenerative and metabolic disorders may also present with ataxia early or late in the course of disease. We present a diagnostic algorithm for the adult patient presenting with subacute cerebellar ataxia, based on family history and straightforward clinical characteristics of the patient. Along with the algorithm, an overview of the autosomal dominant, autosomal recessive, X-linked, mitochondrial, symptomatic and idiopathic subtypes of cerebellar ataxia is presented. An appropriate diagnosis is of utmost importance to such considerations as prognosis, genetic counselling and possible therapeutic implications.
小脑共济失调是一组异质性神经退行性疾病。主要分为两大类:遗传性共济失调和散发性共济失调。散发性共济失调可能是症状性的或特发性的。如今,遗传性共济失调的临床分类正被基于基因型的不断扩展的分类所取代。在疾病过程的早期或晚期,多种退行性和代谢性疾病也可能表现为共济失调。我们基于家族史和患者直接的临床特征,为成年亚急性小脑共济失调患者提出了一种诊断算法。同时,还概述了常染色体显性、常染色体隐性、X连锁、线粒体、症状性和特发性小脑共济失调亚型。对于预后、遗传咨询和可能的治疗意义等方面的考虑,做出恰当的诊断至关重要。