BACKGROUND: Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at 1p36 have been involved in autosomal recessive early-onset parkinsonism. OBJECTIVE: To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene. DESIGN: Clinical and genetic study. SETTING: Collaborative study. Patients Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive dystonia-like to typical early-onset parkinsonism. MAIN OUTCOME MEASURES: The PINK1 genotype and Parkinson disease status of all available family members. RESULTS: The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain. CONCLUSION: This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.
BACKGROUND: Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at 1p36 have been involved in autosomal recessive early-onset parkinsonism. OBJECTIVE: To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene. DESIGN: Clinical and genetic study. SETTING: Collaborative study. Patients Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive dystonia-like to typical early-onset parkinsonism. MAIN OUTCOME MEASURES: The PINK1 genotype and Parkinson disease status of all available family members. RESULTS: The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain. CONCLUSION: This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.
Authors: Cécile Cazeneuve; Channkanira Sân; Salah A Ibrahim; Maowia M Mukhtar; Musa M Kheir; Eric Leguern; Alexis Brice; Mustafa A Salih Journal: Neurogenetics Date: 2009-02-12 Impact factor: 2.660
Authors: Suzanne Lesage; Ariane Lunati; Marion Houot; Sawssan Ben Romdhan; Fabienne Clot; Christelle Tesson; Graziella Mangone; Benjamin Le Toullec; Thomas Courtin; Kathy Larcher; Mustapha Benmahdjoub; Mohammed Arezki; Ahmed Bouhouche; Mathieu Anheim; Emmanuel Roze; François Viallet; François Tison; Emmanuel Broussolle; Murat Emre; Hasmet Hanagasi; Basar Bilgic; Meriem Tazir; Mouna Ben Djebara; Riadh Gouider; Christine Tranchant; Marie Vidailhet; Eric Le Guern; Olga Corti; Chokri Mhiri; Ebba Lohmann; Andrew Singleton; Jean-Christophe Corvol; Alexis Brice Journal: Ann Neurol Date: 2020-05-30 Impact factor: 10.422
Authors: Hanan Khalil; Lana M Chahine; Junaid Siddiqui; Mehri Salari; Shaimaa El-Jaafary; Zakiyah Aldaajani; Mishal Abu Al-Melh; Tareq Mohammad Mohammad; Muneer Abu Snineh; Nadir A Syed; Mohit Bhatt; Mohammad Ahsan Habib; Majed Habahbeh; Samer D Tabbal; Beomseok Jeon; Jawad A Bajwa Journal: J Parkinsons Dis Date: 2020 Impact factor: 5.568