Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

doi:10.1001/jamaneurol.2013.698

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Article

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

JAMA neurology - 1 Jul 2013

Guerreiro Rita, Kara Eleanna, Le Ber Isabelle, Bras Jose, Rohrer Jonathan D, Taipa Ricardo, Lashley Tammaryn, Dupuits Céline, Gurunlian Nicole, Mochel Fanny, Warren Jason D, Hannequin Didier, Sedel Frédéric, Depienne Christel, Camuzat Agnès, Golfier Véronique, Du Boisguéheneuc Foucaud, Schottlaender Lucia, Fox Nick C, Beck Jonathan, Mead Simon, Rossor Martin N, Hardy John, Revesz Tamas, Brice Alexis, Houlden Henry

Abstract excerpt

IMPORTANCE: The leukodystrophies comprise a clinically and genetically heterogeneous group of progressive hereditary neurological disorders mainly affecting the myelin in the central nervous system. Their onset is variable from childhood to adulthood and presentation can be with a variety of clinical features that include mainly for adult-onset cases cognitive decline, seizures, parkinsonism, muscle weakness,...

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PMID: 23649896
DOI: 10.1001/jamaneurol.2013.698
PMCID: PMC4204151

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