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Compound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.
J Neural Transm (Vienna)
January 2025
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente, Cebu, Philippines.
Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium.
View Article and Find Full Text PDFMolecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.
Eur J Med Genet
December 2024
Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the KMT2E gene. Here we report seven new patients with loss-of-function KMT2E variants, six harboring frameshift/nonsense changes, and one with a 7q22.
View Article and Find Full Text PDFApraxia: From Neuroanatomical Pathways to Clinical Manifestations.
Curr Neurol Neurosci Rep
November 2024
Department of Psychology, University of Konstanz, Konstanz, Germany.
Purpose Of Review: Apraxia typically involves impairments in gesture production and tool use, affecting daily life activities. This article reviews current conceptualizations and developments in diagnostic and therapy.
Recent Findings: Apraxia has been studied in various neurological conditions, particularly stroke and dementia, but recent studies show gesturing deficits in psychiatric populations as well.
Neuroimaging Characteristics as Diagnostic Tools in Joubert Syndrome and Related Disorders: A Case Report and Literature Review.
Cureus
September 2024
Neuroradiology Section, Neuroscience Institute, Hamad Medical Corporation, Doha, QAT.
Article Synopsis
- - Joubert syndrome and related disorders (JSRD) are complex and present diagnostic challenges due to their diverse clinical features, making neuroimaging essential for accurate diagnosis.
- - Key neuroimaging techniques like MRI and CT can reveal significant abnormalities, including the "molar tooth sign," cerebellar vermal agenesis, and other neuroanatomical differences.
- - Effective diagnosis and management of JSRD require a combination of clinical assessments, neuroimaging results, and collaboration among different medical specialists to address the various symptoms and complications.
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