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The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient.
Mov 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.
Rete anomaly of the middle cerebral artery: case series of 13 patients from the Northeastern United States.
J Neurointerv Surg
December 2024
Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Background: Rete middle cerebral artery (MCA) is a rare anomaly of the intracranial circulation that mimics congenital Moyamoya disease (MMD). Similar to MMD, it is reported almost exclusively in East-Asian ethnicities. Here, we report 13 patients with rete MCA anomaly from a predominantly non-Asian background in the USA.
View Article and Find Full Text PDFIsolated Agenesis of the Corpus Callosum in a Four-Year-Old: A Case of Preserved Cognitive Function Despite Complete Corpus Callosum Absence.
Cureus
October 2024
Department of Pediatrics, Maternity and Children Hospital, Bisha, SAU.
Agenesis of the corpus callosum (AgCC) is a rare congenital brain anomaly characterized by the partial or complete absence of the corpus callosum, a crucial structure responsible for interhemispheric communication. Neurological outcomes associated with AgCC vary widely, with presentation ranging from severe intellectual disabilities to normal cognitive function. The condition is often discovered incidentally due to the variability in its clinical presentation.
View Article and Find Full Text PDFMYH1 deficiency disrupts outer hair cell electromotility, resulting in hearing loss.
Exp Mol Med
November 2024
Korea Mouse Phenotyping Center, Seoul National University, Seoul, Republic of Korea.
Article Synopsis
- Myh1 is identified as a mouse gene linked to deafness, with its role in the auditory system still unclear; knockout mice show significant hearing impairment and abnormal hair cell function.
- Research shows that MYH1 variants in humans contribute to non-progressive hearing loss, with some individuals also experiencing osteopenia.
- Structural and functional analysis indicates that MYH1 variants disrupt regular activity in outer hair cells, highlighting the gene's essential role in hearing and its genetic connection to hearing loss in affected families.
Compound Heterozygous Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive -Related Myopathy.
Int J Mol Sci
October 2024
Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
Pathogenic variants in the ryanodine receptor 1 () gene are causative for a wide spectrum of muscular phenotypes, ranging from malignant hyperthermia over mild, non-progressive to severe congenital myopathy. Both autosomal dominant and recessive inheritance can occur, with the more severe forms usually showing recessive inheritance. However, genotype-phenotype correlations are complicated due to the large size of the gene and heterogeneous phenotypes.
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