The Analysis of Clinical Manifestations in a Large SCA3 Pedigree
10.3936/j.issn.1002-0152.2014.04.003
- VernacularTitle:一个脊髓小脑共济失调3型家系临床特征分析
- Author:
Jieliang LI
;
Xiaofang SUN
;
Borong ZHOU
;
Wenzhi HE
;
Wenyin HE
;
Yong FAN
;
Jun WEI
;
Detu ZHU
- Publication Type:Journal Article
- Keywords:
Spinocerebellar ataxia 3;
Clinical manifestation;
Magnetic resonance imaging;
Clinical heterogeneity
- From:
Chinese Journal of Nervous and Mental Diseases
2014;(4):202-208
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analysis the clinical manifestations of a large Spinocerebellar Ataxia 3 pedigree to pro-vide the information for the early diagnosis of Ataxia 3. Methods SCA3/ATXN3 gene was determined by using Poly-merase Chain Reaction and fragment analysis in the large pedigree members and patients ’clinical data was collected. Five patients underwent MRI imaging and fundus examination. Results There were eighteen clinical patients and twelve ATXN3 carriers in this Pedigree . In addition to ataxia, three patients presented with intellectual disability, one with cer-vical spondylosis, one with dysmyotonia, one with disorder in visual system, and seven with abnormality in autonomic ner-vous system. The MRI revealed that pons and cerebellar atrophy in some patients inordinately. Undus examination did not reveal any obvious abnormality. Conclusions The symptoms of SCA3 are heterogeneous in the same pedigree. When patients present with symptoms of cerebellar system, visual system and autonomic nervous system, or cervical spondylosis and intellectual disability, SCA3 should be considered.
