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

Year: 2003

Type: article

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.

Source: Neurology

DOI: 10.1212/01.wnl.0000094120.09977.92

Authors: H. Houlden, S. Lincoln, M. Farrer, P.G. Cleland, J. Hardy, R.W. Orrell

Institutions: National Institutes of Health, Mayo Clinic, The Royal Free Hospital, Newcastle upon Tyne Hospital, Mayo Clinic in Florida, University College London

Language: English

Topic: Neurological diseases and metabolism

Subfield: Neurology

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2086824920

FWCI: 2.295

Cites: 9

Cited by: 57

Related to: 10