RT Journal Article
SR Electronic
T1 The profile of motor unit number estimation (MUNE) in spinal and bulbar muscular atrophy
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 567
OP 571
DO 10.1136/jnnp.2009.190462
VO 81
IS 5
A1 Keisuke Suzuki
A1 Masahisa Katsuno
A1 Haruhiko Banno
A1 Yu Takeuchi
A1 Motoshi Kawashima
A1 Noriaki Suga
A1 Atsushi Hashizume
A1 Tetsuo Hama
A1 Kei Uchida
A1 Fumitada Yamashita
A1 Tomohiko Nakamura
A1 Masaaki Hirayama
A1 Fumiaki Tanaka
A1 Gen Sobue
YR 2010
UL http://jnnp.bmj.com/content/81/5/567.abstract
AB Objective Spinal and bulbar muscular atrophy (SBMA) is a lower motor neuron disease caused by the expansion of a trinucleotide CAG repeat in the androgen receptor (AR) gene. The fundamental histopathological finding of this disease is an extensive loss of lower motor neurons in the spinal cord and brainstem. It is, however, difficult to evaluate clinically the degree of motor neuron degeneration, which stresses the need for biomarkers to detect the remaining neuronal function.Methods The authors performed motor unit number estimation (MUNE) in 52 patients with SBMA, to investigate whether this method could be a potential biomarker of SBMA, and re-evaluated MUNE 1 year later in a subgroup of the patients.Results The number of functioning motor units was remarkably reduced in patients with SBMA compared with controls, and was correlated with both ipsilateral grip power and disease duration. A longitudinal analysis demonstrated a further reduction in motor units within 1 year.Conclusions The results suggest that MUNE is an electrophysiological parameter that reflects the severity and progression of motor neuron degeneration in patients with SBMA.