Медицинская библиотека · Muscle & nerve · 2011

Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease).

Rocchi Camilla, Greco Viviana, Urbani Andrea, Di Giorgio Alessandra, Priori Marina, Massa Roberto, Bernardi Giorgio, Marfia Girolama A

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Аннотация

INTRODUCTION

Spinobulbar muscular atrophy (SBMA) is an inherited adult-onset motor neuron disease caused by the expansion of a polyglutamine tract within the androgen receptor. Autonomic nervous system involvement (ANS) is not considered part of SBMA. The aim of this study was to assess autonomic cardiovascular function in 5 SBMA patients.

METHODS

Five quantitative autonomic function tests (AFTs) were performed in 5 SBMA patients. Plasma noradrenaline (NA) concentration in patients and in 5 healthy subjects was also measured.

RESULTS

AFTs were abnormal in 4 of the 5 patients, and plasma NA concentration was significantly reduced in patients with respect to controls.

CONCLUSION

The impairment of cardiovascular responses to AFTs in addition to reduced plasma NA concentration observed in our patients suggests subclinical involvement of the ANS in Kennedy disease.

Для цитирования: Rocchi Camilla, Greco Viviana, Urbani Andrea, Di Giorgio Alessandra, Priori Marina, Massa Roberto, Bernardi Giorgio, Marfia Girolama A. Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease).. Muscle & nerve. 2011. DOI: 10.1002/mus.22159.

Предметные рубрики MeSH

Adult Autonomic Nervous System Autonomic Nervous System Diseases Bulbo-Spinal Atrophy, X-Linked Humans Male Middle Aged Norepinephrine Receptors, Androgen

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