Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)

J. R.M. Oliveira; E. Spiteri; M. J. Sobrido; S. Hopfer; J. Klepper; T. Voit; J. Gilbert; Z. K. Wszolek; D. B. Calne; A. J. Stoessl; M. Hutton; B. V. Manyam; F. Boller; M. Baquero; D. H. Geschwind

doi:10.1212/01.WNL.0000145601.88274.88

Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)

J. R.M. Oliveira, E. Spiteri, M. J. Sobrido, S. Hopfer, J. Klepper, T. Voit, J. Gilbert, Z. K. Wszolek, D. B. Calne, A. J. Stoessl, M. Hutton, B. V. Manyam, F. Boller, M. Baquero, D. H. Geschwind

Neurology

Research output: Contribution to journal › Article › peer-review

91 Scopus citations

Abstract

Familial idiopathic basal ganglia calcification (IBGC, Fahr disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia brain calcifications, parkinsonism, and neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC.

Original language	English (US)
Pages (from-to)	2165-2167
Number of pages	3
Journal	Neurology
Volume	63
Issue number	11
DOIs	https://doi.org/10.1212/01.WNL.0000145601.88274.88
State	Published - Dec 14 2004

ASJC Scopus subject areas

Clinical Neurology

Access to Document

10.1212/01.WNL.0000145601.88274.88

Cite this

Oliveira, J. R. M., Spiteri, E., Sobrido, M. J., Hopfer, S., Klepper, J., Voit, T., Gilbert, J., Wszolek, Z. K., Calne, D. B., Stoessl, A. J., Hutton, M., Manyam, B. V., Boller, F., Baquero, M., & Geschwind, D. H. (2004). Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology, 63(11), 2165-2167. https://doi.org/10.1212/01.WNL.0000145601.88274.88

Oliveira, JRM, Spiteri, E, Sobrido, MJ, Hopfer, S, Klepper, J, Voit, T, Gilbert, J, Wszolek, ZK, Calne, DB, Stoessl, AJ, Hutton, M, Manyam, BV, Boller, F, Baquero, M & Geschwind, DH 2004, 'Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)', Neurology, vol. 63, no. 11, pp. 2165-2167. https://doi.org/10.1212/01.WNL.0000145601.88274.88

@article{a1de4532297d4a08bff09e5587749177,

title = "Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)",

abstract = "Familial idiopathic basal ganglia calcification (IBGC, Fahr disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia brain calcifications, parkinsonism, and neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC.",

author = "Oliveira, {J. R.M.} and E. Spiteri and Sobrido, {M. J.} and S. Hopfer and J. Klepper and T. Voit and J. Gilbert and Wszolek, {Z. K.} and Calne, {D. B.} and Stoessl, {A. J.} and M. Hutton and Manyam, {B. V.} and F. Boller and M. Baquero and Geschwind, {D. H.}",

year = "2004",

month = dec,

day = "14",

doi = "10.1212/01.WNL.0000145601.88274.88",

language = "English (US)",

volume = "63",

pages = "2165--2167",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "11",

}

TY - JOUR

T1 - Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)

AU - Oliveira, J. R.M.

AU - Spiteri, E.

AU - Sobrido, M. J.

AU - Hopfer, S.

AU - Klepper, J.

AU - Voit, T.

AU - Gilbert, J.

AU - Wszolek, Z. K.

AU - Calne, D. B.

AU - Stoessl, A. J.

AU - Hutton, M.

AU - Manyam, B. V.

AU - Boller, F.

AU - Baquero, M.

AU - Geschwind, D. H.

PY - 2004/12/14

Y1 - 2004/12/14

N2 - Familial idiopathic basal ganglia calcification (IBGC, Fahr disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia brain calcifications, parkinsonism, and neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC.

AB - Familial idiopathic basal ganglia calcification (IBGC, Fahr disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia brain calcifications, parkinsonism, and neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC.

UR - http://www.scopus.com/inward/record.url?scp=10444289094&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=10444289094&partnerID=8YFLogxK

U2 - 10.1212/01.WNL.0000145601.88274.88

DO - 10.1212/01.WNL.0000145601.88274.88

M3 - Article

C2 - 15596772

AN - SCOPUS:10444289094

SN - 0028-3878

VL - 63

SP - 2165

EP - 2167

JO - Neurology

JF - Neurology

IS - 11

ER -

Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this