Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia
✍ Scribed by Lund, A; Udd, B; Juvonen, V; Andersen, P M; Cederquist, K; Ronnevi, L-O; Sistonen, P; Sörensen, S A; Tranebjærg, L; Wallgren-Pettersson, C
- Book ID
- 110025010
- Publisher
- Nature Publishing Group
- Year
- 2000
- Tongue
- English
- Weight
- 184 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1018-4813
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## Abstract Postural tremor is a common initial symptom in spinal and bulbar muscular atrophy (SBMA), but its pathophysiological mechanisms remain to be studied. This study was undertaken to examine the physiological mechanisms underlying postural tremor in SBMA. For eight patients (36–63 years old
Spinal-bulbar muscular atrophy (SBMA) is a rare X-linked neuronopathy associated with an abnormal representation of androgen receptors in the nervous system. Standard nerve conduction and histopathological studies have disclosed the involvement of large myelinated sensory fibers in the spinal nerves