Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy
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DOI: 10.1007/s10072-021-05555-x
Abstract: In this study, we performed analysis of brainstem reflexes and movement disorders using surface polymyogram in L-2-hydroxyglutaric aciduria (L2HGA). We also reviewed all cases in the literature with detailed clinical and radiological description to analyze… read more here.
Keywords: tremor; postural tremor; cerebellar atrophy; hydroxyglutaric aciduria ... See more keywords
Tongue and cerebellar atrophy
Sign Up to like & getrecommendations! Published in 2022 at "Neurological Sciences"
DOI: 10.1007/s10072-021-05804-z
Abstract: A -year-old woman complained of limb weakness and walking instability for 12 years. She presented with difficulty in running compared to her peers since she was young. At the age of 10 years, she presented… read more here.
Keywords: muscle; hand; atrophy; tongue cerebellar ... See more keywords
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2019.11.002
Abstract: We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in Oxidative Resistance 1 (OXR1) in five individuals from three families; these individuals presented with a… read more here.
Keywords: autosomal recessive; resistance; cerebellar atrophy; oxr1 ... See more keywords
Phenytoin and damage to the cerebellum – a systematic review of published cases
Sign Up to like & getrecommendations! Published in 2022 at "Expert Opinion on Drug Safety"
DOI: 10.1080/14740338.2022.2058487
Abstract: ABSTRACT Introduction The antiseizure medication phenytoin has been associated with changes in the cerebellum, cerebellar signs, and permanent cerebellar damage. We have systematically reviewed the clinical and radiological features, and their correlation. Areas covered We… read more here.
Keywords: cerebellar atrophy; damage; damage cerebellum; phenytoin damage ... See more keywords
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy
Sign Up to like & getrecommendations! Published in 2019 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy351
Abstract: LonP1 is crucial for maintaining mitochondrial proteostasis and mitigating cell stress. We identified a novel homozygous missense LONP1 variant, c.2282 C > T, (p.Pro761Leu), by whole-exome and Sanger sequencing in two siblings born to healthy consanguineous parents.… read more here.
Keywords: progressive cerebellar; cerebellar atrophy; pyruvate dehydrogenase; lonp1 ... See more keywords
P14.102 Cerebellar atrophy patterns in paraneoplastic cerebellar degeneraiton and spinocerebellar ataxia 1 (SCA1)
Sign Up to like & getrecommendations! Published in 2019 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noz126.337
Abstract: Brain and more specifically cerebellar atrophy is a major radiological finding in both Paraneoplastic Cerebellar Degeneration (PCD) with anti-Yo antibodies and Spinocerebellar Ataxia type 1 (SCA1).We sought to analyze the different brain volumetric patterns of… read more here.
Keywords: paraneoplastic cerebellar; spinocerebellar ataxia; sca1; pcd ... See more keywords
Pathogenic variants in the SMN complex gene GEMIN5 cause cerebellar atrophy.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical genetics"
DOI: 10.1111/cge.14066
Abstract: Cerebellar ataxia is a genetically heterogeneous disorder. GEMIN5, encoding an RNA-binding protein of the survival of motor neuron complex, is essential for small nuclear ribonucleoprotein biogenesis, and it was recently reported that biallelic loss-of-function variants… read more here.
Keywords: cerebellar atrophy; cause cerebellar; gemin5 cause;
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
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DOI: 10.3389/fcell.2022.783762
Abstract: The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure… read more here.
Keywords: cerebellar atrophy; variants gemin5; gemin5; biallelic variants ... See more keywords
Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice
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DOI: 10.3389/fncel.2017.00343
Abstract: Spino-Cerebellar-Ataxia type 38 (SCA38) is caused by missense mutations in the very long chain fatty acid elongase 5 gene, ELOVL5. The main clinical findings in this disease are ataxia, hyposmia and cerebellar atrophy. Mice in… read more here.
Keywords: elovl5 knock; knock mice; cerebellar atrophy; mice ... See more keywords
Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.988519
Abstract: Misato mitochondrial distribution and morphology regulator 1 (MSTO1) is a nuclear-encoded cytoplasmic protein involved in mitochondrial fusion and distribution. Its disruption causes an extremely rare mitochondrial disorder characterized by early-onset myopathy and cerebellar ataxia. The… read more here.
Keywords: cerebellar atrophy; compound heterozygous; heterozygous mutations; msto1 ... See more keywords
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders
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DOI: 10.3390/ijms23126723
Abstract: The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated calcium channel that modulates intracellular Ca2+ release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants in the ITPR1 gene are associated with… read more here.
Keywords: cerebellar atrophy; itpr1 related; related disorders; itpr1 ... See more keywords