Phenotype- genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)

The authors analyzed the clinical phenotype, including MRI, of eight patients with Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCLFin; CLN5; MIM256731). Although the four known mutations, including one novel mutation identified in this study, have very different consequences fo...

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Bibliographic Details
Published in:	Neurology Vol. 55; no. 4; pp. 579 - 581
Main Authors:	HOLMBERG, V, LAURONEN, L, AUTTI, T, SANTAVUORI, P, SAVUKOSKI, M, UVEBRANT, P, HOFMAN, I, PELTONEN, L, JÄRVELÄ, I
Format:	Journal Article
Language:	English
Published:	Hagerstown, MD Lippincott Williams & Wilkins 22-08-2000
Subjects:	Adolescent Adult Atrophy Atrophy - etiology Biological and medical sciences Brain Brain - diagnostic imaging Brain - pathology Child Chromosomes Chromosomes, Human, Pair 13 - genetics diagnosis Disease Progression DNA Mutational Analysis epidemiology Errors of metabolism etiology Female Finland Finland - epidemiology genetics Genotype Heterozygote Homozygote Human Humans Lipids (lysosomal enzyme disorders, storage diseases) Lysosomal Membrane Proteins Magnetic Resonance Imaging Male MEDICAL AND HEALTH SCIENCES Medical sciences MEDICIN OCH HÄLSOVETENSKAP Membrane Proteins Membrane Proteins - genetics Metabolic diseases Mutation Neuronal Ceroid-Lipofuscinoses Neuronal Ceroid-Lipofuscinoses - diagnosis Neuronal Ceroid-Lipofuscinoses - epidemiology Neuronal Ceroid-Lipofuscinoses - genetics Pair 13 pathology Phenotype radiography Tomography Tomography, X-Ray Computed X-Ray Computed Finland Human Nervous system diseases Bielchowsky Jansky disease Metabolic diseases Genotype Genetic determinism Enzymopathy Nuclear magnetic resonance imaging Cerebral disorder Genetic disease Phenotype Central nervous system disease Adolescent Phenotype variation Medical imagery Finnish Neuronal ceroid lipofuscinosis Mutation Lipoidosis Child
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Summary:	The authors analyzed the clinical phenotype, including MRI, of eight patients with Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCLFin; CLN5; MIM256731). Although the four known mutations, including one novel mutation identified in this study, have very different consequences for the predicted polypeptide, none of them results in an atypical phenotype, as has been reported in other forms of NCL. Thus, it seems likely that each mutation severely disturbs the normal function of the CLN5 protein.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0028-3878 1526-632X
DOI:	10.1212/WNL.55.4.579