Literature DB >> 12027835

Adult metachromatic leukodystrophy: three cases with normal nerve conduction velocities in a family.

N Cengiz1, T Ozbenli, M Onar, L Yildiz, B Ertaş.   

Abstract

Here, we report three cases of late onset metachromatic leukodystrophy (MLD) within a family. The patients presented with psychiatric disturbances and dementia. The arylsulphatase A (ASA) level in leucocytes was zero in all the patients. The cranial magnetic resonance imaging (MRI) revealed bilateral symmetrical demyelination but the nerve conduction velocities were normal in all three cases. The clinical, biochemical, imaging and electrophysiological data of the family has been discussed.

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Year:  2002        PMID: 12027835     DOI: 10.1034/j.1600-0404.2002.01257.x

Source DB:  PubMed          Journal:  Acta Neurol Scand        ISSN: 0001-6314            Impact factor:   3.209


  6 in total

Review 1.  Young onset dementia.

Authors:  E L Sampson; J D Warren; M N Rossor
Journal:  Postgrad Med J       Date:  2004-03       Impact factor: 2.401

Review 2.  Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.

Authors:  Asif Mahmood; Jay Berry; David A Wenger; Maria Escolar; Magdi Sobeih; Gerald Raymond; Florian S Eichler
Journal:  J Child Neurol       Date:  2009-12-28       Impact factor: 1.987

3.  Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and postpartum depression in 2 sisters.

Authors:  Hojka Gregoric Kumperscak; Eduard Paschke; Peter Gradisnik; Jernej Vidmar; Stanislava Umek Bradac
Journal:  J Psychiatry Neurosci       Date:  2005-01       Impact factor: 6.186

4.  Phenotypic variation between siblings with Metachromatic Leukodystrophy.

Authors:  Saskia Elgün; Jakob Waibel; Christiane Kehrer; Diane van Rappard; Judith Böhringer; Stefanie Beck-Wödl; Jennifer Just; Ludger Schöls; Nicole Wolf; Ingeborg Krägeloh-Mann; Samuel Groeschel
Journal:  Orphanet J Rare Dis       Date:  2019-06-11       Impact factor: 4.123

Review 5.  Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.

Authors:  Shanice Beerepoot; Stefan Nierkens; Jaap Jan Boelens; Caroline Lindemans; Marianna Bugiani; Nicole I Wolf
Journal:  Orphanet J Rare Dis       Date:  2019-11-04       Impact factor: 4.123

6.  Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis.

Authors:  Lulu Xu; Meixiang Zhong; Yajuan Wang; Zhihong Wang; Jie Song; Jing Zhao; Hongyun Yu; Zhencui Yang; Wenjing Yan; Xueping Zheng
Journal:  Front Neurol       Date:  2021-01-11       Impact factor: 4.003

  6 in total

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