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http://dx.doi.org/10.1111/j.1442-200X.2008.02545.x | DOI Listing |
Parkinsonism Relat Disord
August 2025
Neurology Department, Coimbra University Hospital, Coimbra Local Health Unit, Portugal; Inherited Metabolic Disease Reference Center / MetabERN, Coimbra University Hospital, Coimbra Local Health Unit, Portugal.
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a disorder caused by variants in the SLC2A1 gene. Clinical features are heterogeneous, from the classic presentation to milder later-onset phenotypes. We describe the case of a male patient with adult-onset paroxysmal dyskinesia in a mild phenotype of GLUT1DS (NM_006516.
View Article and Find Full Text PDFEur J Paediatr Neurol
March 2025
Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin 1, Ireland; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland. Electronic address:
Background: Paroxysmal movement disorders (PxMD) are characterized by episodic involuntary movements and include paroxysmal dyskinesias (PD) and episodic ataxias (EA). Although reported in the medical literature since 1892, the exact prevalence in children is unknown.
Objectives: To determine the prevalence and clinical characteristics of PxMD in the pediatric population in the Republic of Ireland.
Tremor Other Hyperkinet Mov (N Y)
December 2024
Veracity Neuroscience LLC, Memphis, Tennessee, USA.
Background: mutations are associated with a diverse set of distinct neurological syndromes and intermediate phenotypes that may include extra-neural features. Overall, genotype-phenotype correlations are weak. There are no consensus treatments.
View Article and Find Full Text PDFMov Disord
February 2025
Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, Istanbul, Turkey.
Background: ATX-FGF/SCA27A has been exclusively associated with heterozygous variants in the FGF14 gene, presenting with postural tremor, slowly progressive cerebellar ataxia, and psychiatric and behavioral disturbances.
Objectives: This study describes the first case of ATX-FGF/SCA27A linked to a biallelic frameshift variant in the FGF14 gene.
Methods: Whole-exome sequencing (WES) was conducted using the Illumina NovaSeq 6000 platform, and the identified variant was confirmed using Sanger sequencing.
Mov Disord
December 2024
Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.