scholarly journals Late-onset cerebellar ataxia in an adult with a novel mutation in the CLN5 gene

2020 ◽  
Vol 3 ◽  
pp. e8
Author(s):  
Raashda A. Sulaiman ◽  
◽  
Salma Majid Wakil ◽  
Saeed Boholega ◽  
◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Late Onset ◽  
Novel Mutation

scholarly journals Late onset Alexander’s disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene

2010 ◽  
Vol 258 (5) ◽  
pp. 938-940 ◽  
Author(s):  
Stephan Schmidt ◽  
Mike P. Wattjes ◽  
Wanda M. Gerding ◽  
Marjo van der Knaap
Keyword(s):  
Cerebellar Ataxia ◽  
Late Onset ◽  
Novel Mutation ◽  
Alexander's Disease

CANVAS is a common form of late-onset hereditary ataxia

2020 ◽  
pp. 51-52
Author(s):  
Е.П. Нужный ◽  
Н.Ю. Абрамычева ◽  
Е.Г. Воробьева ◽  
Е.О. Иванова ◽  
Ю.А. Шпилюкова ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Picture ◽  
Autosomal Recessive ◽  
Late Onset ◽  
Repeat Expansion ◽  
Hereditary Ataxia ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia

Синдром CANVAS (мозжечковая атаксия, невропатия и вестибулярная арефлексия) - аутосомно-рецессивная атаксия с поздним дебютом, обусловленная носительством биаллельной экспансии (AAGGG)n во 2-м интроне гена RFC1. До настоящего момента отсутствуют сведения о распространенности данного заболевания в российских семьях. Нами был проведен поиск биаллельной экспансии AAGGG-повторов у 35 российских пациентов с поздней мозжечковой атаксией. Верифицированы 5 пациентов (14,3%) с синдромом CANVAS и характерной клинической картиной. CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia) is a late-onset autosomal recessive ataxia due to biallelic (AAGGG)n repeat expansion in the 2nd intron of the RFC1 gene. There is no information on the CANVAS prevalence in Russian families. We searched for biallelic expansion of AAGGG repeats in 35 Russian patients with late-onset cerebellar ataxia. Five patients (14.3%) with CANVAS syndrome and a characteristic clinical picture were verified.

Late-onset cerebellar ataxia due to Gordon Holmes Syndrome

2020 ◽  
Vol 79 ◽  
pp. e113-e114
Author(s):  
C.-Y. Kok ◽  
T.-Y. Tee ◽  
A. Karim ◽  
H. Leong
Keyword(s):  
Cerebellar Ataxia ◽  
Late Onset

Clinical and Neuroimaging Characterization of Chinese Dementia Patients with PSEN1 and PSEN2 Mutations

2014 ◽  
Vol 39 (1-2) ◽  
pp. 32-40 ◽  
Author(s):  
Zhihong Shi ◽  
Ying Wang ◽  
Shuai Liu ◽  
Mengyuan Liu ◽  
Shuling Liu ◽  
...  
Keyword(s):  
Early Onset ◽  
Late Onset ◽  
Novel Mutation ◽  
Chinese Patients ◽  
Phenotypic Traits ◽  
Chinese Han ◽  
Risk Variants ◽  
Dementia Patients ◽  
Positron Emission ◽  
Neurodegenerative Dementia

Background: Alzheimer's disease (AD) and frontotemporal dementia (FTD) are two common forms of primary neurodegenerative dementia. Mutations in 3 genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset AD. Methods: We performed gene sequencing in PSEN1, PSEN2, and APP in 61 AD and 35 FTD Chinese patients. Amyloid load using 11C-labeled Pittsburgh compound B (11C-PIB) positron emission tomography (PET) and cerebral glucose metabolism using 18F-fludeoxyglucose PET were evaluated in patients carrying mutations. Results: We identified 1 known pathogenic PSEN1 (p.His163Arg, c.488A>G) mutation and 3 novel PSEN2 mutations in 6 patients. The novel mutation PSEN2 (p.His169Asn, c.505C>A) was identified in 1 patient with familial late-onset AD and in 1 sporadic FTD patient. The PSEN2 (p.Val214Leu, c.640G>T; p.Lys82Arg, c.245A>G) mutations were identified in 2 early-onset AD patients and 1 early-onset AD patient, respectively. Three patients with PSEN2 mutations were observed to have PIB retention on the cortex and striatum. One patient with the FTD phenotype was not observed to have PIB retention. Conclusion: PSEN2 mutations are common in the Chinese Han population with a history of AD and FTD. Pathogenic mutations or risk variants in the PSEN2 gene can influence both FTD and AD phenotypic traits and show variations in neuroimaging characterization. © 2014 S. Karger AG, Basel

scholarly journals Spinocerebellar ataxia type 6 in Brazil

2008 ◽  
Vol 66 (3b) ◽  
pp. 691-694 ◽  
Author(s):  
Hélio A.G. Teive ◽  
Renato Puppi Munhoz ◽  
Salmo Raskin ◽  
Lineu César Werneck
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Late Onset ◽  
Cag Repeat ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 6 ◽  
Voltage Dependent ◽  
Pure Cerebellar Ataxia ◽  
Japanese Ancestry

Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to three different Brazilian families, all of them with Japanese ancestry, from Hokkaido island of Japan.

Late-onset cerebellar ataxia: Do not forget Friedreich's

2016 ◽  
Vol 31 (1) ◽  
pp. 7-8 ◽  
Author(s):  
Maria Stamelou
Keyword(s):  
Cerebellar Ataxia ◽  
Late Onset

scholarly journals Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing

2021 ◽  
Vol 33 (4) ◽  
pp. 301-310
Author(s):  
Andreas Thieme ◽  
Christel Depienne ◽  
Dagmar Timmann
Keyword(s):  
Cerebellar Ataxia ◽  
Chronic Cough ◽  
Late Onset ◽  
Neurological Diseases ◽  
Brain Mri ◽  
Genetic Research ◽  
Sensory Nerve ◽  
Repeat Expansions ◽  
Factor C ◽  
Pentanucleotide Repeat

Abstract The cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a late-onset and recessively inherited ataxia. For many years, CANVAS has been diagnosed based on the clinical phenotype. Only recently, a large biallelic pentanucleotide repeat expansion in the replication factor C subunit 1 (RFC1) gene has been identified as the underlying genetic cause for the large majority of CANVAS cases. Subsequently, other phenotypes such as ataxia with chronic cough, incomplete CANVAS and MSA-C-like phenotypes have been associated with biallelic RFC1 repeat expansions. Because of this heterogeneity it has been suggested to change the name of the disease to “RFC1 disease”. Chronic cough is characteristic and can precede neurological symptoms by years or decades. In the neurological examination signs of cerebellar, sensory, and vestibular ataxia are frequently observed. Nerve conduction studies usually show absent or markedly reduced sensory nerve action potentials. On brain MRI cerebellar degeneration and spinal cord alterations are common. In later disease stages more widespread neurodegeneration with additional involvement of the brainstem and basal ganglia is possible. As yet, the exact incidence of RFC1-associated neurological diseases remains uncertain although first studies suggest that RFC1-related ataxia is common. Moreover, the pathophysiological mechanisms caused by the large biallelic pentanucleotide repeat expansions in RFC1 remain elusive. Future molecular and genetic research as well as natural history studies are highly desirable to pave the way towards personalized treatment approaches.

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