Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic
نویسندگان
چکیده
منابع مشابه
Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative ganglionopathy. Prompted by the presence of symptomatic postural hypotension in two patients with CANVAS, we hypothesized that autonomic dysfunction may be an associated feature of the syndrome. We assessed symptoms of autonomic dysfunction and performed autonomic nervous system t...
متن کاملNeurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome.
INTRODUCTION Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently described multisystem ataxia defined by the presence of cerebellar ataxia, bilateral vestibulopathy, and a somatosensory deficit. The characteristic clinical sign is an abnormal visually enhanced vestibuloocular reflex. The somatosensory deficit contributes to a significant level of...
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Sensory conduction was studied in six patients with chronic sensory ataxic neuropathy of an idiopathic type and associated with Sjögren's syndrome. Motor nerve conduction velocities were normal in most cases, but sensory nerve potentials could not be evoked in a routine peripheral nerve conduction study. Cortical and cervical somatosensory evoked potentials (SEPs) and evoked potentials from Erb...
متن کاملOptokinetic response in patients with vestibular areflexia.
Optokinetic nystagmus (OKN) responses (stimuli 40°/s and 60°/s) were evaluated in 121 patients with vestibular areflexia (VA) and were compared with a control group of 99 control subjects matched by age. The mean response levels were significantly higher in the VA group than in the control group: 1.7°/s at 40°/s stimulation, and 4.4°/s at 60°/s. The VA group showed a significantly wider scatter...
متن کاملFamilial congenital vestibular areflexia.
Three cases in one family are presented with oscillopsia due to vestibular areflexia, but without hearing loss. There was no history of other neurological or otological diseases (including infectious diseases) or use of neuro-ototoxic drugs. Laboratory tests, including tests for autoimmune diseases, were undisturbed. Petrosal radiographs and brain CT scans were normal. The pedigree suggested au...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2020
ISSN: 0022-3050,1468-330X
DOI: 10.1136/jnnp-2020-323719