Markova E D, Insarova N G, Gurskaia N Z, Illarioshkin S N
Zh Nevropatol Psikhiatr Im S S Korsakova. 1989;89(3):3-7.
Eight patients with Pierre Mary hereditary cerebellar ataxia were followed for several years in four generations of a family. Clinical pictures in those afflicted were stereotype: step-by-step increase of cerebellar and brainstem disorders, reduction of intellect, enforced tendon and periosteal reflexes with extrapyramidal and pelvic disorders absent even in the far developed cases. A strict autosome-dominant type of inheritance was demonstrated with no one generation escaped. Analysis of clinical signs suggests the nosologic separateness of the disease. The issues of its differentiation with several other forms of hereditary disorders are discussed.
对一个家族四代中的8名患有皮埃尔·玛丽遗传性小脑共济失调的患者进行了数年随访。患者的临床表现具有刻板性：小脑和脑干功能障碍逐步加重，智力减退，腱反射和骨膜反射亢进，即使在病情严重的病例中也无锥体外系和盆腔功能障碍。证实为严格的常染色体显性遗传类型，无一代幸免。对临床体征的分析表明该疾病在病种上具有独立性。文中讨论了该疾病与其他几种遗传性疾病鉴别的问题。
