NOVEL MUTATIONS AND FINDINGS IN A COHORT OF MCLEOD NEUROACANTHOCYTOSIS, AN X-LINKED HD PHENOCOPY
Peikert K, Schlotter-Weigel B, Montagnese F, Reilich P, Saft C, Marxreiter F, Kohl Z, Evers S, Von Kalckreuth W, Buhmann C, Mayer B, Walther E, Orth A, Hoenig M, Nedeltchev K, Loscher WN, Jung HH, Mattle-Greminger M, Frey BM, Hermann A, Danek A (2021)
Publication Type: Conference contribution
Publication year: 2021
Journal
Publisher: BMJ PUBLISHING GROUP
City/Town: LONDON
Pages Range: A30-A30
Conference Proceedings Title: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
DOI: 10.1136/jnnp-2021-EHDN.71
Abstract
Background McLeod syndrome (MLS) is an ultra-rare neurodegenerative X-linked disease caused by mutations in the XK gene, classified as one of the core neuroacanthocytosis syndromes. Together with the clinically very similar chorea-acanthocytosis it belongs to the heterogeneous group of ‘Huntington’s disease (HD) phenocopies’.
Aims To characterize a cohort of HD phenocopies with the genetically confirmed diagnosis of McLeod syndrome.
Methods This is a retrospective and prospective analysis of genotype and phenotype of sixteen McLeod cases.
Results We longitudinally characterized the second largest cohort known to date. We identified novel XK mutations as well as deletions that extend into the PRRG1 gene (novel) and describe two contiguous gene deletion cases of MLS with X-linked chronic granulomatous disease (deletion also effecting the CYBB gene). This study confirms core features of MLS such as late onset hyperkinetic movements in association with neuro/myopathy, neuropsychiatric impairment, cardiac involvement, hyperCKemia. Novel aspects in this MLS series seem obstructive sleep apnea and epileptic seizure onset in childhood.
Conclusions Our study expands the limited knowledge on the variable course, the various clinical manifestations and the genetic spectrum of a hereditary HD phenocopy syndrome.
Authors with CRIS profile
Involved external institutions
Katholisches Klinikum Bochum (St. Josef- und St. Elisabeth-Hospital gGmbH)
Germany (DE)
Ludwig-Maximilians-Universität (LMU)
Germany (DE)
Universitätsklinikum Ulm
Germany (DE)
Swiss Red Cross
Switzerland (CH)
Universitätsmedizin Rostock
Germany (DE)
Universitätsklinikum Hamburg-Eppendorf (UKE)
Germany (DE)
Knappschaftsklinikum Saar
Germany (DE)
University of Zurich / Universität Zürich (UZH)
Switzerland (CH)
Universität Regensburg
Germany (DE)
Medizinische Universität Innsbruck
Austria (AT)
Charité - Universitätsmedizin Berlin
Germany (DE)
Westfälische Wilhelms-Universität (WWU) Münster
Germany (DE)
Kantonsspital Aarau AG
Switzerland (CH)
Schön Klinik Hamburg Eilbek
Germany (DE)
Germany (DE)
Ludwig-Maximilians-Universität (LMU)
Germany (DE)
Universitätsklinikum Ulm
Germany (DE)
Swiss Red Cross
Switzerland (CH)
Universitätsmedizin Rostock
Germany (DE)
Universitätsklinikum Hamburg-Eppendorf (UKE)
Germany (DE)
Knappschaftsklinikum Saar
Germany (DE)
University of Zurich / Universität Zürich (UZH)
Switzerland (CH)
Universität Regensburg
Germany (DE)
Medizinische Universität Innsbruck
Austria (AT)
Charité - Universitätsmedizin Berlin
Germany (DE)
Westfälische Wilhelms-Universität (WWU) Münster
Germany (DE)
Kantonsspital Aarau AG
Switzerland (CH)
Schön Klinik Hamburg Eilbek
Germany (DE)
How to cite
APA:
Peikert, K., Schlotter-Weigel, B., Montagnese, F., Reilich, P., Saft, C., Marxreiter, F.,... Danek, A. (2021). NOVEL MUTATIONS AND FINDINGS IN A COHORT OF MCLEOD NEUROACANTHOCYTOSIS, AN X-LINKED HD PHENOCOPY. In JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (pp. A30-A30). LONDON: BMJ PUBLISHING GROUP.
MLA:
Peikert, Kevin, et al. "NOVEL MUTATIONS AND FINDINGS IN A COHORT OF MCLEOD NEUROACANTHOCYTOSIS, AN X-LINKED HD PHENOCOPY." Proceedings of the JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY LONDON: BMJ PUBLISHING GROUP, 2021. A30-A30.
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