Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family

2001 ◽  
Vol 50 (1) ◽  
pp. 108-112 ◽  
Author(s):  
Manuel Comabella ◽  
John S. Waye ◽  
Nuria Raguer ◽  
Barry Eng ◽  
Carmen Domínguez ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Missense Mutation ◽  
Metachromatic Leukodystrophy ◽  
Late Onset ◽  
Compound Heterozygosity ◽  
Spanish Family

Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene

2016 ◽  
Vol 51 (3) ◽  
pp. 683-687 ◽  
Author(s):  
Katharina Stoeck ◽  
Marios Nikos Psychogios ◽  
Andreas Ohlenbusch ◽  
Robert Steinfeld ◽  
Jens Schmidt
Keyword(s):  
Missense Mutation ◽  
Early Onset ◽  
Metachromatic Leukodystrophy ◽  
Late Onset ◽  
Arylsulfatase A ◽  
Early Onset Dementia

scholarly journals Isolated Peripheral Neuropathy in Atypical Metachromatic Leukodystrophy: A Recurrent Mutation

2002 ◽  
Vol 29 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Marion B. Coulter-Mackie ◽  
Derek A. Applegarth ◽  
Jennifer R. Toone ◽  
Liane Gagnier ◽  
André R. Anzarut ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Peripheral Neuropathy ◽  
Nerve Conduction ◽  
Metachromatic Leukodystrophy ◽  
Neurodegenerative Disorder ◽  
Late Onset ◽  
Homozygous Mutation ◽  
Arylsulfatase A ◽  
African Green Monkey Kidney

Abstract:Background:Metachromatic leukodystrophy (MLD) is a genetic neurodegenerative disorder resulting from a deficiency of arylsulfatase A. Late onset forms are relatively rare. Central nervous system (CNS) involvement is characteristic at all ages.Methods:A patient in her late 40s with peripheral neuropathy was assessed by EEG, evoked potentials, CTand nerve conduction studies. Nerve and muscle biopsy samples were investigated by electron microscopy. Arylsulfatase A activity in leukocytes and excreted cerebroside sulfate were determined. The arylsulfatase A gene was investigated for mutations using polymerase chain reaction (PCR) and DNAsequencing. The identified mutation was expressed transiently in African green monkey kidney (COS) cells to determine the effect of the mutation on arylsulfatase A activity.Results:Central nervous system functions were normal. Nerve conduction velocities were decreased. Sural nerve biopsy showed inclusions typical of MLD. Arylsulfatase A was less than 5% of normal. A homozygous mutation thr286pro was identified in the arylsulfatase A gene and demonstrated to be deleterious through transient expression studies.Conclusions:Our patient has a progressive peripheral neuropathy but has apparently intact CNS function at her present age of 57 years. Biochemical, physiological and pathological findings are consistent with a diagnosis of MLD. A homozygous mutation, thr286pro, found in her arylsulfatase A gene, decreased enzyme activity to a level consistent with a late onset form of MLD.

Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy

2017 ◽  
Vol 38 (9) ◽  
pp. 1721-1722 ◽  
Author(s):  
Liana Africa ◽  
Maria Margollicci ◽  
Simona Salvatore ◽  
Bita Shalbafan ◽  
Luana Peruzzi ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Late Onset ◽  
Spastic Paraparesis ◽  
Compound Heterozygosity ◽  
Iranian Patient ◽  
Galc Gene

Peripheral neuropathy in late-onset Krabbe disease: report of three cases

2012 ◽  
Vol 34 (1) ◽  
pp. 79-83 ◽  
Author(s):  
A. Malandrini ◽  
C. D’Eramo ◽  
S. Palmeri ◽  
C. Gaudiano ◽  
S. Gambelli ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Late Onset ◽  
Krabbe Disease

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy

1993 ◽  
Vol 2 (4) ◽  
pp. 261-267 ◽  
Author(s):  
John S. Harvey ◽  
Paul V. Nelson ◽  
William F. Carey ◽  
Evelyn F. Robertson ◽  
C. Phillip Morris
Keyword(s):  
Missense Mutation ◽  
Metachromatic Leukodystrophy ◽  
Arylsulfatase A

scholarly journals A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma

2007 ◽  
Vol 143 (9) ◽  
Author(s):  
Agustín España ◽  
Fermin García-Amigot ◽  
Leyre Aguado ◽  
Jesús García-Foncillas
Keyword(s):  
Missense Mutation ◽  
Spanish Family ◽  
Cyld Gene

A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot–Marie–Tooth disease type 1

2001 ◽  
Vol 184 (2) ◽  
pp. 149-153 ◽  
Author(s):  
Tsuyoshi Yoshihara ◽  
Fumio Kanda ◽  
Masahiko Yamamoto ◽  
Hiroyuki Ishihara ◽  
Ken-ichiro Misu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Growth Response ◽  
Late Onset ◽  
Early Growth ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Early Growth Response ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

CT and MRI in late-onset metachromatic leukodystrophy

1987 ◽  
Vol 75 (1) ◽  
pp. 64-69 ◽  
Author(s):  
I. Reider-Grosswasser ◽  
N. Bornstein
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Late Onset ◽  
Ct And Mri
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