Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes
نویسندگان
چکیده
منابع مشابه
Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes.
OBJECTIVE To study whether clinical characteristics can differentiate sporadic presentations of hereditary spastic paraparesis (HSP) from primary lateral sclerosis (PLS). Differentiation between these diseases is important for genetic counseling and prognostication. DESIGN Case series. SETTING Tertiary referral center. PATIENTS One hundred four Dutch patients with an adult-onset, sporadic...
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The discovery of the genetic basis of hereditary lower motor neuron disease (LMND) and the recognition of multifocal motor neuropathy as a distinct clinical entity necessitate a new classification of LMND. To this end, we studied the clinical and electrophysiological features of 49 patients with sporadic adult-onset LMND in a cross-sectional study. Disease duration was more than 4 years to excl...
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Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal muscular atrophy, distal hereditary motor neuropathy and LMN variants of familial motor neuron disease. Recent genetic advances have resulted ...
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Electromyographic responses of triceps surae to dorsiflexion stretch were studied in 47 patients with a variety of lesions producing an upper motor neuron syndrome. The short latency spinal reflexes, both when the patient was at rest and when he was exerting a voluntary plantarflexion, were frequently enhanced in magnitude and the rate of increase with acceleration was also enhanced. Long-laten...
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The nosology and aetiology of sporadic adult-onset ataxia are poorly understood. The aim of the present study was to answer the following questions: (i) How many sporadic ataxia patients have a genetic cause? (ii) How many sporadic ataxia patients suffer from multiple system atrophy (MSA)? (iii) Is there a specific association between sporadic ataxia and serum anti-glutamic acid decarboxylase (...
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ژورنال
عنوان ژورنال: Journal of Neurology
سال: 2009
ISSN: 0340-5354,1432-1459
DOI: 10.1007/s00415-009-5009-6