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Clinical correlates of autonomic dysfunction in patients with Machado‐Joseph disease
Author(s) -
França Jr M. C.,
D’Abreu A.,
Nucci A.,
LopesCendes I.
Publication year - 2010
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.2009.01249.x
Subject(s) - machado–joseph disease , dysautonomia , sudomotor , pure autonomic failure , autonomic nervous system , medicine , familial dysautonomia , disease , autonomic function , degenerative disease , orthostatic vital signs , cardiology , psychology , spinocerebellar ataxia , heart rate variability , blood pressure , heart rate
França Jr MC, D’Abreu A, Nucci A, Lopes‐Cendes I. Clinical correlates of autonomic dysfunction in patients with Machado‐Joseph disease.
Acta Neurol Scand: 2010: 121: 422–425.
© 2010 The Authors Journal compilation © 2010 Blackwell Munksgaard. Background – Autonomic dysfunction is a usual feature of several neurological conditions characterized by either extra‐pyramidal and/or peripheral damage, such as those seen in Machado‐Joseph disease (MJD). Aims of the study – We used clinical evaluation and sympathetic skin responses (SSR) to assess autonomic function in a large series of patients with MJD. Methods – A total of 50 patients were enrolled in this study and all of them had the molecular confirmation of MJD by DNA genotyping. In addition, a group of 20 control subjects was included. Results – Overall, autonomic complaints were more frequent in patients than in control subjects, especially those related to the genitourinary and sudomotor systems. Eighteen patients (36%) presented abnormal SSR. Age at onset, duration of disease and length of expanded (CAG) n were not different between patients with and without dysautonomia. However, severe dysautonomia was significantly associated with polyneuropathic or parkinsonian phenotypes in patients with MJD. Conclusion – Autonomic symptoms are common, but possibly under recognized in patients with MJD; therefore, we believe that autonomic complaints should be sought in patients with MJD, especially in those with parkinsonian or polyneuropathic phenotypes.