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Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome.
AACE Clin Case Rep
August 2024
Department of Endocrinology, Endocrine ParaThyroid Center, Norman, Oklahoma.
Background/objective: 4H syndrome is a rare form of leukodystrophy characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. In 95% of cases, hypomyelination is present, but other clinical features, such as hypodontia and hypogonadotropic hypogonadism, are not always present and may not be necessary for diagnosis. Hypogonadotropic hypogonadism is the most common endocrine complication that can occur in 4H syndrome.
View Article and Find Full Text PDFPOLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.
Ann Clin Transl Neurol
June 2024
Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.
While biallelic POLR3A loss-of-function variants are traditionally linked to hypomyelinating leukodystrophy, patients with a specific splice variant c.1909+22G>A manifest as adolescent-onset spastic ataxia without overt leukodystrophy. In this study, we reported eight new cases, POLR3A-related disorder with c.
View Article and Find Full Text PDFA 24-Year-Old Man With Spastic Ataxia and Hypodontia.
JAMA Neurol
June 2024
Department of Neurology, Onze-Lieve-Vrouw Hospital, Aalst, Belgium.
Case report: Neuropsychological assessment in a patient with 4H leukodystrophy.
Clin Neuropsychol
July 2024
University of Chicago Medical Center, Department of Psychiatry and Behavioral Neuroscience, Chicago, IL, USA.
POLR3-HLD or 4H leukodystrophy is an autosomal recessive disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, and caused by variants in , , , or genes. Neurological and non-neurological clinical features and disease severity vary. While previous studies reference variable cognition, this is the first report of 4H detailing a comprehensive neuropsychological assessment.
View Article and Find Full Text PDFBiallelic pathogenic variants in alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.
Front Neurol
October 2023
Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
RNA polymerase III-related leukodystrophy (POLR3-related leukodystrophy) is a rare, genetically determined hypomyelinating disease arising from biallelic pathogenic variants in genes encoding subunits of RNA polymerase III (Pol III). Here, we describe the first reported case of POLR3-related leukodystrophy caused by biallelic pathogenic variants in , encoding the RPC4 subunit of Pol III. The individual, a female, demonstrated delays in walking and expressive and receptive language as a child and later cognitively plateaued.
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