Central motor and sensory conduction in X-linked recessive bulbospinal neuronopathy.
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چکیده
منابع مشابه
Central motor and sensory conduction in X-linked recessive bulbospinal neuronopathy.
Central conduction was studied in 12 patients with X-linked recessive bulbospinal neuronopathy (XBSN) using percutaneous electrical cortical, cervical and lumbar stimulation and somatosensory evoked potentials (SEPs). The central motor conduction time from the motor cortex to the cervical and lumbar segments of the spinal cord was normal in XBSN. SEPs, however, were abnormal or central sensory ...
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X-linked recessive bulbospinal neuronopathy (X-BSN) is an adult-onset spinal and bulbar amyotrophy. Neurophysiologic studies demonstrate subclinical involvement of sensory nerves with diminished or absent sensory nerve action potientials and denervation changes, indicating the involvement of sensory neurons. We report the clinical features, findings of electrophysiologic study, and results of m...
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X-linked recessive bulbospinal neuronopathy (SBMA) is an adult onset motor neuronopathy with androgen receptor (AR) gene mutation of expanded CAG repeat size in the first exon. The size of CAG repeats in the AR gene is one of the determinant factors of the severity and progression rate of SBMA phenotypes, but the meiotic and somatic instability of CAG repeats is far more stable as compared with...
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A form of adult onset 'bulbospinal muscular atrophy' of X-linked recessive inheritance is described in 10 patients from eight families. Muscle weakness in the limbs was mainly proximal and developed in the third to fifth decades of life, often preceded by muscle cramps on exertion and tremor of the hands. Weakness and fasciculation of the facial muscles and tongue were prominent. All the patien...
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Defects in the mitochondrial DNA replication enzyme, polymerase γ, are an important cause of mitochondrial disease with ∼25% of all adult diagnoses attributed to mutations in the POLG gene. Peripheral neuronopathy is often part of the clinical syndrome and can represent the most disabling feature. In spite of this, the molecular mechanisms underlying the neuronopathy remain to be elucidated and...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1992
ISSN: 0022-3050
DOI: 10.1136/jnnp.55.5.394