Intrafamilial phenotypic variability in idiopathic Fahr’s disease

Auteur/ices

  • Ben Amou Boutheina
  • Kacem Imen
  • Nasri Amira
  • Ben Djebara Mouna
  • Sidhom Youssef
  • Gargouri Amina
  • Gouider Riadh

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Références

Ashtari F, Fatehi F. Fahr's disease: variable presentation in a family. Neurological Sciences 2010; 31:665-7.

Alemdar M, Selek A, Iseri P, Efendi H. Fahr's disease presenting with paroxysmal non-kinesigenic dyskinesia: a case report. Parkinsonism Related Disorders 2008; 14:69-71.

Casanova MF, Araque JM. Mineralization of the basal ganglia: implications for neuropsychiatry, pathology and neuroimaging. Psychiatry Research 2003; 12:159-87.

Hempel A, Henze M, Berghoff C, Garcia N, Ody R, Schroder J.PET findings and neuropsychological deficits in a case of Fahr's disease. Psychiatry Research 2001; 108: 133-40

Le Ber I, Marié RM, Chabot B, Lalevée C, Defer GL. Neuropsychological and 18FDG-PET studies in a family with idiopathic basal ganglia calcifications. Journal of the Neurological Sciences 2007; 258: 115-22.

Wan-Jin Chen et al. Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia. Gene 2013; 529: 159-62.

Dai X., et al. Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification. American Journal of Medical Genetics Part B Neuropsychiatric genetics 2010 ; 153B : 1305-10

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Publiée

2017-03-06

Numéro

Rubrique

cas cliniques en bref