The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
L LeonardisJ Zidar

Abstract

  Mutations in atlastin-1 (ATL-1), a gene known to cause pure, early-onset autosomal dominant hereditary spastic paraplegia SPG3A, have been recently reported to cause hereditary sensory neuropathy I (HSN I). We describe the detailed clinical and electrophysiologic findings in the first family with ulcero-mutilating sensory neuropathy carrying the c. C1065A, p.N355K mutation in ATL-1.   Detailed clinical and electrophysiologic studies were performed in affected and at-risk family members. Motor and sensory nerve conductions studies (NCS) were carried out in upper and lower limbs. ATL-1 was screened for mutations by direct sequencing.   Ten patients were found to carry the N355K mutation. With the exception of the two youngest patients, all had trophic skin changes in the feet consisting mainly of painless ulcers. Frequently, amputation of toes, feet, or even more proximal parts of the lower legs became necessary. A variable degree of increased muscle tone was observed in younger patients, whilst some older affected individuals only presented with hyperreflexia of patellar tendon reflexes. NCS revealed signs of an axonal motor and sensory neuropathies.   Our family carrying the N355K ATL1 mutation, which was initially diagnosed ...Continue Reading

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Citations

Nov 12, 2015·Brain : a Journal of Neurology·Celeste MontecchianiAntonio Orlacchio
Jan 22, 2013·The EMBO Journal·Laura J ByrnesHolger Sondermann
Jun 27, 2013·Muscle & Nerve·Christopher J KleinMichael E Shy
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Jul 25, 2017·Annals of Human Genetics·Anna Uhrová MészárosováPavel Seeman
Oct 10, 2019·Journal of the Peripheral Nervous System : JPNS·Catarina Falcão de CamposTanya Stojkovic

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