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Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences.
Dis Model Mech
July 2024
Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Article Synopsis
- Pontocerebellar hypoplasia type 2a (PCH2a) is a rare genetic disorder affecting children, characterized by underdeveloped brain regions (cerebellum and pons) and progressive small head size (microcephaly).
- The disorder is caused by a specific genetic variant in the TSEN54 gene, which impacts a key protein involved in RNA processing, but the underlying mechanisms of the disease are not well understood.
- Researchers created human models of PCH2a using stem cells to study the disease, finding that cerebellar organoids from affected individuals were smaller and showed altered cell growth patterns, suggesting a developmental issue in the brain as part of the disease's
Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10.
Pediatr Neurol
September 2024
Istanbul Medical Faculty, Department of Medical Genetics, Istanbul University, Istanbul, Turkey.
Article Synopsis
- PCH10, caused by mutations in the CLP1 gene, leads to serious brain anomalies, including progressive microcephaly and severe disabilities.
- In a study involving 10 patients over an average of 2.83 years, various neurological assessments showed significant spasticity differences between upper and lower extremities, with only some patients achieving basic motor skills like sitting.
- MRI results revealed various structural brain changes, including cerebellar and cortical atrophy, highlighting the progressive nature of PCH10 and emphasizing the need for early identification and ongoing monitoring of affected patients.
Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations.
Epilepsia Open
February 2024
Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Article Synopsis
- RARS2 gene defects are linked to cerebellopontine hypoplasia type 6 (PCH6), a rare mitochondrial disease, as demonstrated in two male patients with unique family histories.
- The study utilized clinical presentations, MRI scans, and whole-exome sequencing to identify specific genetic mutations in both patients, revealing novel RARS2 variants that were not previously reported.
- The findings suggest a broader spectrum of RARS2 mutations and highlight new phenotypes, including early infantile developmental and epileptic encephalopathies, which strengthen the connection between PCH6 and the RARS2 gene.
Degeneration of olivospinal tract in the upper cervical spinal cord of multiple system atrophy patients: Reappraisal of Helweg's triangular tract.
Brain Pathol
May 2024
Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Aichi, Japan.
Multiple system atrophy (MSA) is an adult-onset neurodegenerative disorder that presents with variable combinations of autonomic dysfunction, cerebellar ataxia, parkinsonism, and pyramidal signs. The inferior olivary nucleus is targeted in MSA, with a phenotype of olivopontocerebellar atrophy in particular, and involvement of the olivocerebellar tract is well known. However, degeneration of the olivospinal tract has not been studied in MSA.
View Article and Find Full Text PDFWidespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias.
Brain
February 2024
The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA.
The spinocerebellar ataxias (SCAs) are a group of dominantly inherited neurodegenerative diseases, several of which are caused by CAG expansion mutations (SCAs 1, 2, 3, 6, 7 and 12) and more broadly belong to the large family of over 40 microsatellite expansion diseases. While dysregulation of alternative splicing is a well defined driver of disease pathogenesis across several microsatellite diseases, the contribution of alternative splicing in CAG expansion SCAs is poorly understood. Furthermore, despite extensive studies on differential gene expression, there remains a gap in our understanding of presymptomatic transcriptomic drivers of disease.
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