A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy
نویسندگان
چکیده
منابع مشابه
Low diagnostic yield of sural nerve biopsy in patients with peripheral neuropathy and primary amyloidosis.
Patients with primary amyloidosis may develop peripheral neuropathy as an early feature. Sural nerve biopsy is reported to be a sensitive method for diagnosing amyloidosis in such patients. We identified nine patients, ultimately diagnosed as having amyloidosis, who were referred for peripheral neuropathy of undetermined etiology. In six, a sural nerve biopsy demonstrated no amyloid. Subsequent...
متن کاملEntrapment neuropathy of the sural nerve.
Entrapment neuropathies have been known for many years. The larger peripheral nerve entrapment lesions such as that of the ulnar nerve at the elbow (Paget 1864), carpal tunnel syndrome (Learmonth 1933) and more recently tarsal tunnel syndrome (Keck 1962, Lam 1962) and the entrapment of the radial nerve in the persistent “tennis elbow” (Roles and Maudsley 1972) have all been described. Neuropath...
متن کاملReduced amplitude of the sural nerve sensory action potential in PARK2 patients.
The authors performed nerve conduction studies in nine PARK2 and eight idiopathic Parkinson disease patients and found a significant reduction of sural sensory nerve action potential (SNAP) amplitude in eight PARK2 patients who mostly remained asymptomatic. These data suggest that sensory axonal neuropathy may be a common clinical feature of PARK2 and a reduced amplitude of sural SNAP could be ...
متن کاملLongitudinal study of neuropathy, microangiopathy, and autophagy in sural nerve: Implications for diabetic neuropathy
OBJECTIVES The progression and pathophysiology of neuropathy in impaired glucose tolerance (IGT) and type 2 diabetes (T2DM) is poorly understood, especially in relation to autophagy. This study was designed to assess whether the presence of autophagy-related structures was associated with sural nerve fiber pathology, and to investigate if endoneurial capillary pathology could predict the develo...
متن کاملPeripheral Sensory Neuropathy Associates With Micro- or Macroangiopathy
OBJECTIVE To assess associations between peripheral sensory neuropathy (PSN) and other diabetes-related complications. RESEARCH DESIGN AND METHOD In an area-based cohort of type 2 diabetic subjects, we investigated 156 subjects (age 61.7 +/- 7.2 years and diabetes duration 7.0 +/- 5.7 years) by questionnaires, clinical examinations, blood and urine sampling, and review of medical records. R...
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ژورنال
عنوان ژورنال: Nature Communications
سال: 2019
ISSN: 2041-1723
DOI: 10.1038/s41467-019-09719-4