Calcium-Mediated Calpain Activation and Microtubule Dissociation in Cell Model of Hereditary Sensory Neuropathy Type-1 Expressing V144D SPTLC1 Mutation

2022 ◽  
Author(s):  
Anu Antony ◽  
Neville Ng ◽  
Antonio Lauto ◽  
Jens R. Coorssen ◽  
Simon J. Myers
Keyword(s):  
Cell Model ◽  
Sensory Neuropathy ◽  
Calpain Activation ◽  
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.

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

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

10.1038/85817 ◽  
2001 ◽  
Vol 27 (3) ◽  
pp. 261-262 ◽  
Author(s):  
Khemissa Bejaoui ◽  
Chenyan Wu ◽  
Margaret D. Scheffler ◽  
Geoffry Haan ◽  
Peter Ashby ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Hereditary Sensory Neuropathy

scholarly journals A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1

Brain ◽  
2014 ◽  
Vol 137 (7) ◽  
pp. e286-e286 ◽  
Author(s):  
Dirk Fischer ◽  
Maria Schabhüttl ◽  
Thomas Wieland ◽  
Reinhard Windhager ◽  
Tim M. Strom ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Sensory Neuropathy ◽  
Hereditary Sensory Neuropathy

Inflammatory glial activation in the brain of a patient with hereditary sensory neuropathy type 1 with deafness and dementia

2004 ◽  
Vol 367 (3) ◽  
pp. 340-343 ◽  
Author(s):  
Kaori Hojo ◽  
Toshio Kawamata ◽  
Chikako Tanaka ◽  
Kiyoshi Maeda
Keyword(s):  
Sensory Neuropathy ◽  
Glial Activation ◽  
Hereditary Sensory Neuropathy ◽  
The Brain

P42 Hereditary sensory neuropathy type 1: correlation of severity and plasma atypical deoxy-sphyngoid bases

2012 ◽  
Vol 22 ◽  
pp. S18 ◽  
Author(s):  
M. Lauraá ◽  
S.M. Murphy ◽  
T. Hornemann ◽  
H. Bode ◽  
J. Polke ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Hereditary Sensory Neuropathy

Hereditary sensory neuropathy type 1 in a Portuguese family—electrodiagnostic and autonomic nervous system studies

2004 ◽  
Vol 227 (1) ◽  
pp. 35-38 ◽  
Author(s):  
Ruth Geraldes ◽  
Mamede de Carvalho ◽  
Mariana Santos-Bento ◽  
Garth Nicholson
Keyword(s):  
Nervous System ◽  
Autonomic Nervous System ◽  
Sensory Neuropathy ◽  
Autonomic Nervous ◽  
Hereditary Sensory Neuropathy

scholarly journals Natural history and biomarkers in hereditary sensory neuropathy type 1

2015 ◽  
Vol 51 (4) ◽  
pp. 489-495 ◽  
Author(s):  
Vera Fridman ◽  
Anne louise Oaklander ◽  
William S. David ◽  
Elise A. Johnson ◽  
Jessica Pan ◽  
...  
Keyword(s):  
Natural History ◽  
Sensory Neuropathy ◽  
Hereditary Sensory Neuropathy

P53 Identifying responsive outcome measures in hereditary sensory neuropathy type 1 (HSN1)

2014 ◽  
Vol 24 ◽  
pp. S21
Author(s):  
U. Kugathasan ◽  
M. Laurá ◽  
T. Hornemann ◽  
M. Skorupinska ◽  
K. Bull ◽  
...  
Keyword(s):  
Outcome Measures ◽  
Sensory Neuropathy ◽  
Hereditary Sensory Neuropathy
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