دورية أكاديمية
أعرض في EDS

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

التفاصيل البيبلوغرافية
العنوان: Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
المؤلفون: Werheid F; Department of Neurology University Hospital RWTH Aachen Aachen Germany; Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany., Azzedine H; Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany., Zwerenz E; Department of Neurology University Hospital RWTH Aachen Aachen Germany; Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany., Bozkurt A; Department of Plastic and Reconstructive Surgery Hand Surgery-Burn Center University Hospital RWTH Aachen Aachen Germany; Department of Plastic & Aesthetic, Reconstructive & Hand Surgery Center for Reconstructive Microsurgery and Peripheral Nerve Surgery (ZEMPEN) Agaplesion Markus Hospital Frankfurt am Main Germany., Moeller MJ; Section Immunology and Nephrology Department of Internal Medicine University Hospital RWTH Aachen Aachen Germany., Lin L; Department of Neurology University Hospital RWTH Aachen Aachen Germany; Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany., Mull M; Department of Neuroradiology University Hospital RWTH Aachen Aachen Germany., Häusler M; Division of Neuropediatrics and Social Pediatrics Department of Pediatrics University Hospital RWTH Aachen Aachen Germany., Schulz JB; Department of Neurology University Hospital RWTH Aachen Aachen Germany; JARA - Translational Brain Medicine Aachen Germany., Weis J; Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany., Claeys KG; Department of Neurology University Hospital RWTH Aachen Aachen Germany; Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany; Department of Neurology University Hospitals Leuven and University of Leuven (KU Leuven) Leuven Belgium.
المصدر: Brain and behavior [Brain Behav] 2016 Mar 04; Vol. 6 (4), pp. e00451. Date of Electronic Publication: 2016 Mar 04 (Print Publication: 2016).
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101570837 Publication Model: eCollection Cited Medium: Internet ISSN: 2162-3279 (Electronic) NLM ISO Abbreviation: Brain Behav Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Hoboken, NJ : John Wiley & Sons
مواضيع طبية MeSH: Charcot-Marie-Tooth Disease/*genetics , Charcot-Marie-Tooth Disease/*pathology , Charcot-Marie-Tooth Disease/*physiopathology, Adult ; Aged ; Charcot-Marie-Tooth Disease/diagnostic imaging ; Child ; Cohort Studies ; Female ; Genotype ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Phenotype ; Young Adult
مستخلص: Introduction: Charcot-Marie-Tooth neuropathy (CMT) is a genetically heterogeneous group of peripheral neuropathies. In addition to the classical clinical phenotype, additional features can occur.
Methods: We studied a wide range of additional features in a cohort of 49 genetically confirmed CMT patients and performed a systematic literature revision.
Results: Patients harbored a PMP22 gene alteration (n = 28) or a mutation in MPZ (n = 11), GJB1 (n = 4), LITAF (n = 2), MFN2 (n = 2), INF2 (n = 1), NEFL (n = 1). We identified four novel mutations (3 MPZ, 1 GJB1). A total of 88% presented at least one additional feature. In MPZ patients, we detected hypertrophic nerve roots in 3/4 cases that underwent spinal MRI, and pupillary abnormalities in 27%. In our cohort, restless legs syndrome (RLS) was present in 18%. We describe for the first time RLS associated with LITAF or MFN2 and predominant upper limb involvement with LITAF. Cold-induced hand cramps occurred in 10% (PMP22,MPZ,MFN2), and autonomous nervous system involvement in 18% (PMP22,MPZ, LITAF,MFN2). RLS and respiratory insufficiency were mostly associated with severe neuropathy, and pupillary abnormalities with mild to moderate neuropathy.
Conclusions: In CMT patients, additional features occur frequently. Some of them might be helpful in orienting genetic diagnosis. Our data broaden the clinical spectrum and genotype-phenotype associations with CMT.
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فهرسة مساهمة: Keywords: Additional symptoms; HMSN; RLS; hereditary motor and sensory neuropathy; pupillary abnormalities
تواريخ الأحداث: Date Created: 20160419 Date Completed: 20171023 Latest Revision: 20210109
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC4782242
DOI: 10.1002/brb3.451
PMID: 27088055
قاعدة البيانات: MEDLINE
الوصف
تدمد:2162-3279
DOI:10.1002/brb3.451