RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy
نویسندگان
چکیده
منابع مشابه
Chronic idiopathic axonal polyneuropathy: a five year follow up.
Seventy five patients with chronic idiopathic axonal polyneuropathy (CIAP) were studied for five years. The standardised and quantified neurological examination shows that progression of CIAP is slow, and handicap, if present, is not severe. During the follow up period a definite cause of the neuropathy was found in only four patients (two hereditary motor and sensory neuropathy type 2, one sen...
متن کاملChronic Idiopathic Axonal Polyneuropathy Is Associated With the Metabolic Syndrome
OBJECTIVE This study aims to investigate the association between chronic idiopathic axonal polyneuropathy (CIAP) and the metabolic syndrome or its individual components. RESEARCH DESIGN AND METHODS A total of 249 patients with CIAP and 709 controls underwent fasting laboratory studies, and blood pressure and waist circumference were measured. The metabolic syndrome was diagnosed if three or m...
متن کاملChronic relapsing idiopathic polyneuropathy with primary axonal lesions.
Idiopathic polyradiculoneuropathy with primary axonal lesions is rarely encountered. Two cases are reported with a chronic relapsing course and a fatal outcome. Neuropathological examination of biopsied peripheral nerve in the two patients and in a necropsy case showed loss of myelinated fibres, but neither active demyelination nor inflammatory cells were observed. Acute and chronic relapsing a...
متن کاملSjögren's syndrome in patients with chronic idiopathic axonal polyneuropathy.
OBJECTIVE To assess the presence of symptoms and signs of Sjögren's syndrome in patients with otherwise idiopathic axonal polyneuropathy and to develop guidelines for the diagnostic approach with respect to Sjögren's syndrome in these patients. METHODS Sixty five patients with axonal polyneuropathy in whom an aetiological diagnosis could not be made underwent (1) a standard interview focusing...
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Pancreatic cancer carries poor prognosis. Establishing the diagnosis early could help in improving outcome. We are presenting a case of pancreatic cancer with delayed diagnosis. Our 60-year-old patient underwent multiple endoscopic ultrasound-guided biopsies with no evidence of malignancy. He had normal molecular tumor biomarkers. The patient needed 8 months to receive the diagnosis and initiat...
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ژورنال
عنوان ژورنال: Journal of Neurology
سال: 2021
ISSN: 0340-5354,1432-1459
DOI: 10.1007/s00415-021-10552-3