1,137 results match your criteria: "Olivopontocerebellar Atrophy"
Mov Disord
February 2023
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Background: Somatic α-synuclein (SNCA) copy number variants (CNVs, specifically gains) occur in multiple system atrophy (MSA) and Parkinson's disease brains.
Objective: The aim was to compare somatic SNCA CNVs in MSA subtypes (striatonigral degeneration [SND] and olivopontocerebellar atrophy [OPCA]) and correlate with inclusions.
Methods: We combined fluorescent in situ hybridization with immunofluorescence for α-synuclein and in some cases oligodendrocyte marker tubulin polymerization promoting protein (TPPP).
Mol Cell Neurosci
March 2023
German Center for Neurodegenerative Diseases (DZNE), Berlin, Germany. Electronic address:
Properly working synapses are one important guarantor for a functional and healthy brain. They are small, densely packed structures, where information is transmitted through the release of neurotransmitters from synaptic vesicles (SVs). The latter cycle within the presynaptic terminal as they first fuse with the plasma membrane to deliver their neurotransmitter, and afterwards become recycled and prepared for a new release event.
View Article and Find Full Text PDFBrain Pathol
May 2023
Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Biology (Basel)
June 2022
Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata City 951-8585, Japan.
Multiple-system atrophy (MSA) is primarily an autonomic disorder with parkinsonism or cerebellar ataxia. Clinical diagnosis of MSA at an early stage is challenging because the symptoms change over the course of the disease. Recently, various artificial intelligence-based programs have been developed to improve the diagnostic accuracy of neurodegenerative diseases, but most are limited to the evaluation of diagnostic imaging.
View Article and Find Full Text PDFNat Rev Dis Primers
August 2022
Department of Neurology, New York University Grossman School of Medicine, New York, NY, USA.
Mov Disord
October 2022
Department of Neurology Hannover Medical School, Hannover, Germany.
Neurotherapeutics
January 2023
Laboratory for Translational Neurodegeneration Research, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Multiple system atrophy (MSA) is a rare neurodegenerative disorder with unclear etiology, currently difficult and delayed diagnosis, and rapid progression, leading to disability and lethality within 6 to 9 years after symptom onset. The neuropathology of MSA classifies the disease in the group of a-synucleinopathies together with Parkinson's disease and other Lewy body disorders, but features specific oligodendroglial inclusions, which are pathognomonic for MSA. MSA has no efficient therapy to date.
View Article and Find Full Text PDFCerebellum
October 2023
Department of Pediatric Radiology and Neuroradiology, Children Hospital V. Buzzi, Milan, Italy.
Pontocerebellar-hypoplasia (PCH) related to TSEN54-gene mutation, a rare autosomal recessive disorder, can be associated with three different phenotypes: PCH2A, PCH4 and PCH5. Prenatal imaging features are very scant, in particular for PCH4 and PCH5. The aim of this letter is to illustrate key role of prenatal MR imaging in better evaluation of the cerebellar vermis-hemispheres and pons, which may lead to the differential diagnosis between three PCH TSEN54-related phenotypes already at mid-gestation based on the pattern of the degree of involvement of the vermis and the cerebellar cortex respectively.
View Article and Find Full Text PDFNeuropathology
October 2022
Department of Pathology, Sagamihara National Hospital, Sagamihara, Japan.
Spinocerebellar degenerations (SCDs) are a diverse group of rare and slowly progressive neurological diseases that include spinocerebellar ataxia type 1 (SCA1), SCA2, SCA3, SCA6, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and multiple system atrophy (MSA). They are often inherited, and affect the cerebellum and related pathways. The combination of clinical findings and lesion distribution has been the gold-standard for classifying SCDs.
View Article and Find Full Text PDFPediatr Neurol
June 2022
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, People's Republic of China. Electronic address:
Background: Pontocerebellar hypoplasia type 6 (PCH6) is an early-onset encephalopathy with/without mitochondrial respiratory complex defects caused by recessive mutations in mitochondrial arginyl-tRNA synthetase (RARS2). Highly heterogeneous clinical phenotypes and numerous missense variations of uncertain significance make diagnosis difficult. Pathogenesis of PCH6 remains unclear.
View Article and Find Full Text PDFAm J Hum Genet
May 2022
Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France. Electronic address:
Biomedicines
March 2022
Institute of Clinical Neurobiology, Alberichgasse 5/13, A-1150 Vienna, Austria.
Multiple system atrophy (MSA) is a fatal, rapidly progressing neurodegenerative disease of uncertain etiology, clinically characterized by various combinations of Levodopa unresponsive parkinsonism, cerebellar, autonomic and motor dysfunctions. The morphological hallmark of this α-synucleinopathy is the deposition of aberrant α-synuclein in both glia, mainly oligodendroglia (glial cytoplasmic inclusions /GCIs/) and neurons, associated with glioneuronal degeneration of the striatonigral, olivopontocerebellar and many other neuronal systems. Typical phenotypes are MSA with predominant parkinsonism (MSA-P) and a cerebellar variant (MSA-C) with olivocerebellar atrophy.
View Article and Find Full Text PDFTomography
February 2022
Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence, Viale GB Morgagni 50, 50134 Florence, Italy.
MRI shows the three archetypal patterns of CNS volume loss underlying progressive ataxias in vivo, namely spinal atrophy (SA), cortical cerebellar atrophy (CCA) and olivopontocerebellar atrophy (OPCA). The MRI-based CNS atrophy pattern was reviewed in 128 progressive ataxias. A CNS atrophy pattern was identified in 91 conditions: SA in Friedreich's ataxia, CCA in 5 acquired and 72 (24 dominant, 47 recessive,1 X-linked) inherited ataxias, OPCA in Multi-System Atrophy and 12 (9 dominant, 2 recessive,1 X-linked) inherited ataxias.
View Article and Find Full Text PDFArch Argent Pediatr
February 2022
Facultad de Medicina, Universidad de La Sabana, Bogotá, Colombia.
The latest method of next-generation sequencing has allowed the characterization and identification of genetic variants associated to diverse pathologies. In this article, we present the case of female patient with a mutation of the RARS2 gene that encodes the enzyme for arginyl tRNA synthetase for coding of proteins. This genetic alteration manifests in pontocerebellar hypoplasia type 6, with a prevalence of<1/1,000,0000, characterized by a cerebellum and pons that are smaller in size and are associated with severe neurodevelopmental delay.
View Article and Find Full Text PDFAm J Case Rep
December 2021
Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan.
BACKGROUND The interference of biotin administration with thyroid function tests has been reported; however, it remains unclear in clinical practice. In this report, we present the case of a neonate with a diagnosis of pontocerebellar hypoplasia type 6 (PCH6) treated with biotin who developed biotin interference with laboratory thyroid function tests. CASE REPORT A 1-day-old male infant with hypothermia, tachypnea, and lactic acidosis had a suspected diagnosis of mitochondrial disease.
View Article and Find Full Text PDFActa Neurol Belg
February 2023
Neuro Imaging and Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
Cerebellum
August 2022
Service of Neurology, University Hospital "Marqués de Valdecilla (IDIVAL)", University of Cantabria, and "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)", Santander, Spain.
The aim of this paper is to carry out a historical overview of the evolution of the knowledge on degenerative cerebellar disorders and hereditary spastic paraplegias, over the last century and a half. Original descriptions of the main pathological subtypes, including Friedreich's ataxia, hereditary spastic paraplegia, olivopontocerebellar atrophy and cortical cerebellar atrophy, are revised. Special attention is given to the first accurate description of striatonigral degeneration by Hans Joachim Scherer, his personal and scientific trajectory being clarified.
View Article and Find Full Text PDFJ Neural Transm (Vienna)
October 2021
ASU-Banner Neurodegenerative Disease Research Center, Biodesign Institute, Arizona State University, Tempe, AZ, USA.
Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by striatonigral degeneration (SND), olivopontocerebellar atrophy (OPCA), and dysautonomia with cerebellar ataxia or parkinsonian motor features. Isolated autonomic dysfunction with predominant genitourinary dysfunction and orthostatic hypotension and REM sleep behavior disorder are common characteristics of a prodromal phase, which may occur years prior to motor-symptom onset. MSA is a unique synucleinopathy, in which alpha-synuclein (aSyn) accumulates and forms insoluble inclusions in the cytoplasm of oligodendrocytes, termed glial cytoplasmic inclusions (GCIs).
View Article and Find Full Text PDFJ Neural Transm (Vienna)
October 2021
Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.
Multiple System Atrophy (MSA) is a rare, fatal neurodegenerative disorder. Its etiology and exact pathogenesis still remain poorly understood and currently no disease-modifying therapy is available to halt or slow down this detrimental neurodegenerative process. Hallmarks of the disease are α-synuclein rich glial cytoplasmic inclusions (GCIs).
View Article and Find Full Text PDFBrain Pathol
January 2022
Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.
Neuropediatrics
December 2021
Department of Pediatrics and Adolescent Medicine, Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Introduction: Pontocerebellar hypoplasia type 2 (PCH2) is a rare neurodevelopmental disease with a high disease burden. Besides neurological symptoms, somatic symptoms, such as gastroesophageal reflux (GERD) and failure to thrive, are major contributors to this burden.
Methods: We report three patients with genetically confirmed PCH2A and significant gastrointestinal (GI) symptoms.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
July 2021
Department of Gynecology and Obstetrics, Huaian Maternal and Child Health Care Hospital, Huaian, Jiangsu 223002, China.
Objective: To explore the genetic basis for a fetus with cerebellar dysplasia and widened lateral ventricles.
Methods: The couple have elected induced abortion after careful counseling. Skin tissue sample from the abortus and peripheral venous blood samples from both parents were collected for the extraction of genomic DNA, which was then subjected to whole exome sequencing.
Mov Disord
November 2021
Laboratory for Translational Neurodegeneration Research, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Background: Multiple system atrophy (MSA) is a fatal neurodegenerative disorder characterized by aggregated α-synuclein (α-syn) in oligodendrocytes and accompanied by striatonigral and olivopontocerebellar degeneration and motor symptoms. Key features of MSA are replicated in the PLP-α-syn transgenic mouse, including progressive striatonigral degeneration and motor deterioration. There are currently no approved treatments for MSA.
View Article and Find Full Text PDFNeuromuscul Disord
August 2021
Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i+12), E-28041 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, E-28041 Madrid, Spain. Electronic address:
We report the case of a 16-year-old Spanish boy with cerebellar and spinal muscular atrophy, spasticity, psychomotor retardation, nystagmus, ophthalmoparesis, epilepsy, and mitochondrial respiratory chain (MRC) deficiency. Whole exome sequencing (WES) uncovered three variants (two of them novel) in a compound heterozygous in EXOSC8 gene (NM_181503.3:c.
View Article and Find Full Text PDFJ Pak Med Assoc
April 2021
Department of Rehabilitation Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Hypertrophic olivary degeneration is a kind of trans-synaptic degeneration, caused by the interruption of dentato rubro olivary pathway. Magnetic resonance imaging (MRI) has been the best modality to show the signals of olivary nucleus hypertrophy. It appears on T2-weighted magnetic resonance imaging as hyper-intensities.
View Article and Find Full Text PDF