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

Neurology

Volumn 55, Issue 4, 2000, Pages 579-581

  Holmberg, V ^a   Lauronen, L ^b,c   Autti, T ^b   Santavuori, P ^c   Savukoski, M ^a   Uvebrant, P ^d   Hofman, I ^e   Peltonen, L ^a,f   Jarvela I ^a  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^e Bartimeushage   (Netherlands)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; IMAGE ANALYSIS; MALE; NEURONAL CEROID LIPOFUSCINOSIS; PHENOTYPE; PRIORITY JOURNAL; RACE DIFFERENCE; SCHOOL CHILD;

EID: 0033849174     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.4.579     Document Type: Article

References (10)

1. Neuronal ceroid-lipofuscinoses in childhood
2. Batten's disease: Eight genes and still counting?
3. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
4. MRI of the normal brain from early childhood to middle age. I. Appearances on T2- and proton density-weighted images and occurrence of incidental high-signal foci
5. Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5)
6. A variant of Jansky-Bielschowsky disease
7. The spectrum of Jansky-Bielschowsky disease
8. Jansky-Bielschowsky variant disease: CT, MRI, and SPECT findings
9. Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5
10. The age of human mutation: Genealogical and link-age disequilibrium analysis of the CLN5 mutation in the Finnish population