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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F14%3A10210573%21RIV15-MSM-11130___
rdf:type
n5:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.1007/s12311-013-0538-z
dcterms:description
Spinocerebellar ataxia type 28 (SCA28) is an autosomal dominant neurodegenerative disorder caused by missense AFG3L2 mutations. To examine the occurrence of SCA28 in the Czech Republic, we screened 288 unrelated ataxic patients with hereditary (N = 49) and sporadic or unknown (N = 239) form of ataxia for mutations in exons 15 and 16, the AFG3L2 mutation hotspots. A single significant variant, frameshift mutation c.1958dupT leading to a premature termination codon, was identified in a patient with slowly progressive speech and gait problems starting at the age of 68 years. Neurological examination showed cerebellar ataxia, mild Parkinsonian features with predominant bradykinesia, polyneuropathy of the lower limbs, and cognitive decline. However, other common SCA28 features like pyramidal tract signs (lower limb hyperreflexia, positive Babinski sign), ophthalmoparesis or ptosis were absent. The mutation was also found in a patient's unaffected daughter in whom a targeted examination at 53 years of age revealed mild imbalance signs. RNA analysis showed a decreased ratio of the transcript from the mutated AFG3L2 allele relative to the normal transcript in the peripheral lymphocytes of both patients. The ratio was increased by puromycin treatment, indicating that the mutated transcript can be degraded via nonsense-mediated RNA decay. The causal link between the mutation and the phenotype of the patient is currently unclear but a pathogenic mechanism based on AFG3L2 haploinsufficiency rather than the usual dominant-negative effect of missense AFG3L2 mutations reported in SCA28, cannot be excluded. Spinocerebellar ataxia type 28 (SCA28) is an autosomal dominant neurodegenerative disorder caused by missense AFG3L2 mutations. To examine the occurrence of SCA28 in the Czech Republic, we screened 288 unrelated ataxic patients with hereditary (N = 49) and sporadic or unknown (N = 239) form of ataxia for mutations in exons 15 and 16, the AFG3L2 mutation hotspots. A single significant variant, frameshift mutation c.1958dupT leading to a premature termination codon, was identified in a patient with slowly progressive speech and gait problems starting at the age of 68 years. Neurological examination showed cerebellar ataxia, mild Parkinsonian features with predominant bradykinesia, polyneuropathy of the lower limbs, and cognitive decline. However, other common SCA28 features like pyramidal tract signs (lower limb hyperreflexia, positive Babinski sign), ophthalmoparesis or ptosis were absent. The mutation was also found in a patient's unaffected daughter in whom a targeted examination at 53 years of age revealed mild imbalance signs. RNA analysis showed a decreased ratio of the transcript from the mutated AFG3L2 allele relative to the normal transcript in the peripheral lymphocytes of both patients. The ratio was increased by puromycin treatment, indicating that the mutated transcript can be degraded via nonsense-mediated RNA decay. The causal link between the mutation and the phenotype of the patient is currently unclear but a pathogenic mechanism based on AFG3L2 haploinsufficiency rather than the usual dominant-negative effect of missense AFG3L2 mutations reported in SCA28, cannot be excluded.
dcterms:title
A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia
skos:prefLabel
A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia
skos:notation
RIV/00216208:11130/14:10210573!RIV15-MSM-11130___
n3:aktivita
n19:S n19:I
n3:aktivity
I, S
n3:cisloPeriodika
3
n3:dodaniDat
n4:2015
n3:domaciTvurceVysledku
n12:5597412 n12:9223665 n12:7244509 n12:9373640
n3:druhVysledku
n17:J
n3:duvernostUdaju
n9:S
n3:entitaPredkladatele
n7:predkladatel
n3:idSjednocenehoVysledku
995
n3:idVysledku
RIV/00216208:11130/14:10210573
n3:jazykVysledku
n14:eng
n3:klicovaSlova
Frameshift mutation; AFG3L2; Spinocerebellar ataxia; SCA28
n3:klicoveSlovo
n8:AFG3L2 n8:Spinocerebellar%20ataxia n8:Frameshift%20mutation n8:SCA28
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[CB41DCC1A7E8]
n3:nazevZdroje
Cerebellum
n3:obor
n16:FH
n3:pocetDomacichTvurcuVysledku
4
n3:pocetTvurcuVysledku
11
n3:rokUplatneniVysledku
n4:2014
n3:svazekPeriodika
13
n3:tvurceVysledku
Kaňovský, P. Mušová, Zuzana Sedláček, Zdeněk Fillerová, R. Křepelová, Anna Zumrová, Alena Menšíková, K. Kriegová, E. Kaiserová, M. Santava, A. Vasovčák, Peter
n3:wos
000335739600004
s:issn
1473-4222
s:numberOfPages
7
n18:doi
10.1007/s12311-013-0538-z
n13:organizacniJednotka
11130