scholarly journals Demyelination in hereditary sensory neuropathy type‐1C

2020 ◽  
Vol 7 (9) ◽  
pp. 1502-1512
Author(s):  
Sadaf Saba ◽  
Yongsheng Chen ◽  
Krishna Rao Maddipati ◽  
Melody Hackett ◽  
Bo Hu ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Hereditary Sensory Neuropathy

scholarly journals Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

2011 ◽  
Vol 88 (1) ◽  
pp. 99-105 ◽  
Author(s):  
Christian Guelly ◽  
Peng-Peng Zhu ◽  
Lea Leonardis ◽  
Lea Papić ◽  
Janez Zidar ◽  
...  
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
Sensory Neuropathy ◽  
Type I ◽  
Hereditary Sensory Neuropathy

scholarly journals Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1

2019 ◽  
Vol 90 (8) ◽  
pp. 895-906 ◽  
Author(s):  
Umaiyal Kugathasan ◽  
Matthew R B Evans ◽  
Jasper M Morrow ◽  
Christopher D J Sinclair ◽  
John S Thornton ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Outcome Measures ◽  
Outcome Measure ◽  
Sensory Neuropathy ◽  
Intramuscular Fat ◽  
Calf Muscle ◽  
Fat Accumulation ◽  
Hereditary Sensory Neuropathy ◽  
Fat Fraction

ObjectivesHereditary sensory neuropathy type 1 (HSN1) is a rare, slowly progressive neuropathy causing profound sensory deficits and often severe motor loss. L-serine supplementation is a possible candidate therapy but the lack of responsive outcome measures is a barrier for undertaking clinical trials in HSN1. We performed a 12-month natural history study to characterise the phenotype of HSN1 and to identify responsive outcome measures.MethodsAssessments included Charcot-Marie-Tooth Neuropathy Score version 2 (CMTNSv2), CMTNSv2-Rasch modified, nerve conduction studies, quantitative sensory testing, intraepidermal nerve fibre density (thigh), computerised myometry (lower limbs), plasma 1-deoxysphingolipid levels, calf-level intramuscular fat accumulation by MRI and patient-based questionnaires (Neuropathic Pain Symptom Inventory and 36-Short Form Health Survey version 2 [SF-36v2]).Results35 patients with HSN1 were recruited. There was marked heterogeneity in the phenotype mainly due to differences between the sexes: males generally more severely affected. The outcome measures that significantly changed over 1 year and correlated with CMTNSv2, SF-36v2-physical component and disease duration were MRI determined calf intramuscular fat accumulation (mean change in overall calf fat fraction 2.36%, 95% CI 1.16 to 3.55, p=0.0004), pressure pain threshold on the hand (mean change 40 kPa, 95% CI 0.7 to 80, p=0.046) and myometric measurements of ankle plantar flexion (median change −0.5 Nm, IQR −9.5 to 0, p=0.0007), ankle inversion (mean change −0.89 Nm, 95% CI −1.66 to −0.12, p=0.03) and eversion (mean change −1.61 Nm, 95% CI −2.72 to −0.51, p=0.006). Intramuscular calf fat fraction was the most responsive outcome measure.ConclusionMRI determined calf muscle fat fraction shows validity and high responsiveness over 12 months and will be useful in HSN1 clinical trials.

scholarly journals The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy

2015 ◽  
Vol 18 (1) ◽  
pp. 81-90 ◽  
Author(s):  
Saranya Suriyanarayanan ◽  
Mari Auranen ◽  
Jussi Toppila ◽  
Anders Paetau ◽  
Maria Shcherbii ◽  
...  
Keyword(s):  
Late Onset ◽  
Sensory Neuropathy ◽  
Hereditary Sensory Neuropathy

P46 Clinical and genetic characterisation of hereditary sensory neuropathy type 1 caused by mutations in SPTLC2

2012 ◽  
Vol 22 ◽  
pp. S19
Author(s):  
S.M. Murphy ◽  
M. Laurá ◽  
D. Ernst ◽  
Y.-T. Liu ◽  
J. Blake ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Genetic Characterisation ◽  
Hereditary Sensory Neuropathy

scholarly journals Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22–p24

Brain ◽  
2005 ◽  
Vol 128 (12) ◽  
pp. 2797-2810 ◽  
Author(s):  
Penelope J. Spring ◽  
Cindy Kok ◽  
Garth A. Nicholson ◽  
Alvin J. Ing ◽  
Judith M. Spies ◽  
...  
Keyword(s):  
Clinical Features ◽  
Chronic Cough ◽  
Autosomal Dominant ◽  
Sensory Neuropathy ◽  
Oesophageal Reflux ◽  
Hereditary Sensory Neuropathy

Hereditary Sensory Neuropathy

2006 ◽  
pp. 329-335
Author(s):  
Simon J. Myers ◽  
Garth A. Nicholson
Keyword(s):  
Sensory Neuropathy ◽  
Hereditary Sensory Neuropathy
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