Sensory ataxia as the initial clinical symptom in X-linked recessive bulbospinal neuronopathy
نویسندگان
چکیده
منابع مشابه
Sensory neuropathy in X-linked recessive bulbospinal neuronopathy.
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...
متن کاملX-linked recessive bulbospinal neuronopathy (SBMA).
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...
متن کاملX-linked recessive bulbospinal neuronopathy: a report of ten cases.
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...
متن کاملCentral 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 ...
متن کاملSex-linked recessive congenital ataxia.
A family is reported in which three boys, two full brothers and a half brother, presented with marked delay in motor milestones, severe limb and truncal ataxia, nystagmus, speech delay and moderate global retardation. Autosomal recessive and sex linked recessive forms of cerebellar hypoplasia are reviewed and it is suggested that this family may have a rare, if not unique, form of sex-linked ce...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2000
ISSN: 0022-3050
DOI: 10.1136/jnnp.69.2.277