Gualandi, Francesca, Sette, Elisabetta, Fortunato, Fernanda, Bigoni, Stefania, De Grandis, Domenico, Scotton, Chiara, Selvatici, Rita ORCID: 0000-0002-3099-0100, Neri, Marcella, Incensi, Alex ORCID: 0000-0003-2163-5403, Liguori, Rocco, Storbeck, Markus, Karakaya, Mert, Simioni, Valentina, Squarzoni, Stefano ORCID: 0000-0001-6538-5923, Timmerman, Vincent, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Donadio, Vincenzo, Tugnoli, Valeria and Ferlini, Alessandra (2019). Report of a novel ATP7A mutation causing distal motor neuropathy. Neuromusc. Disord., 29 (10). S. 776 - 786. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

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Abstract

We describe a novel ATP7A gene mutation associated with distal motor neuropathy, mild connective tissue abnormalities and autonomic disturbances. Next-generation sequencing analysis of a lower-motor neuron diseases gene panel was performed in two sibs presenting with distal motor neuropathy plus an autonomic dysfunction, which main manifestations were retrograde ejaculation, diarrhea and hyperhydrosis. Probands underwent dysmorphological, neurological, electrophysiological as well as biochemical evaluations and somatic and autonomic innervation studies on skin biopsies. A novel missense mutation (p.A991D) was identified in the X-linked ATP7A gene, segregating in both brothers and inherited from their healthy mother. Biochemical studies on patients' blood samples showed reduced serum copper and ceruloplasmin levels. Clinical and neurophysiological evaluation documented dysautonomic signs. Quantitative evaluation of skin innervation disclosed a small fiber neuropathy with prevalent autonomic involvement. Mutations in the ATP7A gene, encoding for a copper-transporting ATPase, have been associated with the severe infantile neurodegenerative Menkes disease and in its milder variant, the Occipital Horn Syndrome. Only two ATP7A mutations were previously reported as causing, a pure axonal distal motor neuropathy (dHMN-SMAX3). The phenotype we report represents a further example of this rare genotype-phenotype correlation and highlights the possible occurrence in SMAX3 of autonomic disturbances, as described for Menkes disease and Occipital Horn Syndrome. (C) 2019 Elsevier B.V. All rights reserved.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Gualandi, FrancescaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sette, ElisabettaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fortunato, FernandaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bigoni, StefaniaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
De Grandis, DomenicoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scotton, ChiaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Selvatici, RitaUNSPECIFIEDorcid.org/0000-0002-3099-0100UNSPECIFIED
Neri, MarcellaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Incensi, AlexUNSPECIFIEDorcid.org/0000-0003-2163-5403UNSPECIFIED
Liguori, RoccoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Storbeck, MarkusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Karakaya, MertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simioni, ValentinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Squarzoni, StefanoUNSPECIFIEDorcid.org/0000-0001-6538-5923UNSPECIFIED
Timmerman, VincentUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wirth, BrunhildeUNSPECIFIEDorcid.org/0000-0003-4051-5191UNSPECIFIED
Donadio, VincenzoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tugnoli, ValeriaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ferlini, AlessandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-131980
DOI: 10.1016/j.nmd.2019.08.008
Journal or Publication Title: Neuromusc. Disord.
Volume: 29
Number: 10
Page Range: S. 776 - 786
Date: 2019
Publisher: PERGAMON-ELSEVIER SCIENCE LTD
Place of Publication: OXFORD
ISSN: 1873-2364
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
ALPHA-SYNUCLEIN DEPOSITS; OCCIPITAL HORN SYNDROME; AUTONOMIC FAILURE; MENKES; TRAFFICKING; EXPRESSION; BIOMARKER; DISEASEMultiple languages
Clinical Neurology; NeurosciencesMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/13198

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