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Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic

Houlden, H; Lincoln, S; Farrer, M; Cleland, PG; Hardy, J; Orrell, RW; (2003) Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. NEUROLOGY , 61 (10) 1423 - 1426.

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Abstract

The authors describe a patient with hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration ( HARP) who has two compound heterozygote mutations of the PANK2 gene. IVS4-1 G > T segregates with the lipid and erythrocyte changes in the mother and sister. No other family members have the lipid, erythrocyte, or clinical abnormalities. The father and two brothers are heterozygous for Met327Thr. One other mutation has been found in this PANK2 region associated with the HARP phenotype, suggesting a local genotype effect.

Type: Article
Title: Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
Keywords: PALLIDAL DEGENERATION, RETINITIS-PIGMENTOSA, HYPOPREBETALIPOPROTEINEMIA, NEURODEGENERATION, ACANTHOCYTOSIS, DISEASE, MRI
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/155580
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