A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy
PBN-AR
Instytucja
Instytut Matki i Dziecka
Informacje podstawowe
Główny język publikacji
en
Czasopismo
JOURNAL OF THE NEUROLOGICAL SCIENCES
ISSN
0022-510X
EISSN
Wydawca
ELSEVIER SCIENCE BV
DOI
URL
Rok publikacji
2014
Numer zeszytu
1–2
Strony od-do
214-217
Numer tomu
338
Identyfikator DOI
Liczba arkuszy
Autorzy przekładu
(liczba autorów przekładu: 0)
Słowa kluczowe
en
Cerebellar ataxia
Metachromatic leukodystrophy
Arylsulfatase A
Magnetic resonance imaging
Lysosomal storage disease
Neurometabolic disease
Streszczenia
Język
en
Treść
Abstract Metachromatic leukodystrophy (MLD) is a rare lysosomal disorder caused by deficient activity of arylsulfatase A or the lack of saposin B, which results in the accumulation of sulfatide in the oligodendrocytes and in the Schwann cells. Three main clinical types of MLD can be distinguished according to the age of onset and the dynamics of clinical outcome: late infantile, juvenile, and adult. We report on a case of late infantile MLD presenting with cerebellar ataxia as the only first clinical sign preceding even changes in white matter visible in MR imaging. The diagnosis was made on the basis of successive MRI, characteristic of demyelination, which developed in the course of the disease, and on the results of the following biochemical and molecular analyses. Very low residual activity of arylsulfatase A was demonstrated in blood leukocytes and the patient was a homozygote for a common mutation c.459+1G>A in the ARSA gene. Since cerebellar ataxia is a relatively common but unspecific neurological symptom in toddlers, it is recommended that MLD be considered as part of the differential diagnosis even if the initial neuroimaging studies are normal and ataxia is the only clinical symptom of the disease.
Cechy publikacji
ORIGINAL_ARTICLE
Inne
System-identifier
588514
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