RFC1 expansions are a common cause of idiopathic sensory neuropathy
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چکیده
منابع مشابه
C9orf72 repeat expansions are a rare genetic cause of parkinsonism.
The recently identified C9orf72 gene accounts for a large proportion of amyotrophic lateral sclerosis and frontotemporal lobar degenerations. As several forms of these disorders are associated with parkinsonism, we hypothesized that some patients with Parkinson's disease or other forms of parkinsonism might carry pathogenic C9orf72 expansions. Therefore, we looked for C9orf72 repeat expansions ...
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BACKGROUND It is recognized that FMR1 premutation expansions are associated with premature ovarian failure (POF), but the role of smaller repeats at the boundary of premutation and normal is less clear. METHODS We have therefore investigated the incidence of these intermediate sized FMR1 CGG repeats (35-58 repeats) in a series of 366 women ascertained because of menopause before the age of 40...
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A 24-year old female patient with the history of pressure ulcers in distal extremities resulted in severe deformity will be reported. Her disease started when she was 9 years old and a similar history was found in her brother. In physical examination, pain and temperature sensations were impaired in distal extremities. Nerve conduction velocity showed impaired sensory and normal motor responses...
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To an increasing extent, the desire to catalog and categorize neurologic disorders based on genotype– phenotype correlations is challenged by frequent departures from the syndromic categorizations that were commonplace in the pregenomic era. This challenge is not limited to the recent striking revelations concerning diseases attributable to noncoding, nonconventional mutations, such as repeat e...
متن کاملMalignancy and sensory neuropathy of unexplained cause: a prospective study of 51 patients.
OBJECTIVE To investigate the frequency of cancer developing in patients with peripheral sensory neuropathy of unexplained cause. DESIGN Prospective study. SETTING A neurologic unit in a general hospital. METHODS Following the diagnosis of neuropathy, we searched for occult malignancy. This search was repeated together with neurologic evaluations every 6 months thereafter. Patient recruitm...
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ژورنال
عنوان ژورنال: Brain
سال: 2021
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awab072