Objective: This study aimed to report the case of a patient with paroxysmal nonkinesigenic dyskinesias and Fahr syndrome who had a marked response to carbamazepine.
Methods: We present the case of a 57-year-old female patient with episodes of paroxysmal choreoathetoid dyskinesias in the oromandibular region and distal region of upper and lower extremities, with fluctuating dystonic postures in the same distribution; duration was variable ranging from 30 minutes to 3 hours. Laboratory studies were consistent with primary hyperparathyroidism with bilateral brain calcifications.
Results: Treatment with low doses of carbamazepine was successful.
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http://dx.doi.org/10.1097/WNF.0000000000000164 | DOI Listing |
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
December 2024
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.
Acta Neurol Belg
October 2024
Department of Neurology, Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Mov Disord
December 2024
Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
eNeurologicalSci
September 2024
Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka 830-0011, Japan.
Familial paroxysmal non-kinesigenic dyskinesia, which is a major form of paroxysmal dyskinesias, is characterized by intermittent attacks that include one side, subsequently spreading to the other side, involving the limbs and face, and is triggered by caffeine, alcohol, emotional stress, fatigue, and sleep deprivation, but not by sudden movement. A 26-year-old man had experienced dystonic movements and a choreiform right arm spreading to his arms, legs, and face since the age of one year. Oral dyskinesias and, rarely, dysarthria were also observed.
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