INTRODUCTION Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is most commonly caused by missense mutations in SPTLC1. In this study we mapped symptom progression and compared the utility of outcomes. METHODS We administered retrospective surveys of symptoms and analyzed results of nerve conduction, autonomic function testing (AFT), and PGP9.5-immunolabeled skin biopsies. RESULTS ...

A familial occurrence of chronic inflammatory demyelinating polyneuropathy is reported. The diagnostic problems in distinguishing the progressive form of this disease in childhood from hereditary motor and sensory neuropathy types I and III are discussed. Criteria for a definite diagnosis of chronic inflammatory demyelinating polyneuropathy are proposed.

Hereditary sensory and autonomic neuropathy type I (HSAN I) is the most frequent type of hereditary neuropathy that primarily affects sensory neurons. The genetic locus for HSAN I has been mapped to chromosome 9q22.1-22.3 and recently the gene was identified as SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1. Sequencing in HSAN I families have previously identified mutat...

Long lists of causes of peripheral neuropathy make peripheral nerve disease a dry and uninspiring subject. A simple scheme based on the answers to just six questions should enable the clinician to recognise characteristic patterns, investigate relevant subgroups appropriately, and identify treatable disorders quickly: which systems are involved? What is the distribution of weakness? What is the...

A patient with chronic inflammatory demyelinating polyneuropathy (CIDP) established by biopsy developed cauda equina symptoms due to swelling of the nerve roots in the lumbar spinal canal. Magnetic resonance imaging of the lumbar spine showed profoundly thickened nerve roots from the level of the conus medullaris, filling the caudal thecal sac. Immunosuppressant treatment produced partial clini...

Does sensorimotor dysfunction underlie reading impairment? To investigate this question, a battery of literacy, phonology, auditory, visual, and motor tests were administered to age- and ability-matched groups of dyslexic, autistic, and control children. As in previous studies, only a subset of the dyslexic children had sensory and/or motor impairments, whilst some dyslexics were entirely spare...

BACKGROUND People with severe/profound multiple (e.g., intellectual, motor, or sensory-motor) disabilities are frequently restricted to a situation of inactivity and dependence, which may be modified by promoting functional activity engagement through assistive technology. METHODS This study assessed the possibility of promoting functional activity engagement via microswitch-aided programs wi...

This study investigated the associations of sensory-motor functions with mobility in elderly people. All 75- and 80-year-old residents of the city of Jyväskylä, Finland, were invited to take part in the study. A total of 617 (93%) persons were interviewed, and 500 (75%) took part in laboratory examinations. Self-reported mobility was recorded during the interview. Basic mobility functions (maxi...

PDN is commonly caused by involvement of either the C fibres or the Aδ fibres. PDN caused by the involvement of small nerve fibers (C fibres), may present without objective clinical findings, such as decreased peripheral reflexes or abnormalities, on routine electrophysiological studies. Small fiber neuropathies may manifest as a number of different clinical symptoms, including allodynia, burni...

Sir, We read with great interest the letter by Dr. Martinez-Lavin in response to our article (Üçeyler et al., 2013). Sympathetic dysfunction has indeed been widely discussed in fibromyalgia syndrome. During a systematic review of the literature undertaken in 2008 for the first German S3-guideline on fibromyalgia syndrome we already identified 29 original articles on this subject, including work...