Spinocerebellar ataxia type 17 in the Yugoslav population

A. Alendar; B. Čuljković; D. Savić; A. Djarmati; M. Keckarević; A. Ristić; N. Dragašević; V. Kosić; S. Romac

doi:10.1034/j.1600-0404.2003.00196.x

Spinocerebellar ataxia type 17 in the Yugoslav population

A. Alendar, B. Čuljković, D. Savić, A. Djarmati, M. Keckarević, A. Ristić, N. Dragašević, V. Kosić, S. Romac^*

^*Corresponding author for this work

4 Citations (Scopus)

Abstract

Objectives - (1) Analysis of Spinocerebellar ataxia type 17 (SCA17) locus in a group of ataxic patients excluded on other known SCAs; (2) assessment of frequency distributions of SCA17 alleles in the Yugoslav population. Material and methods - Study includes 115 non-related Yugoslav patients belonging to autosomal-dominant cerebellar ataxias or to sporadic idiopathic adult-onset ataxia and 115 controls. Analysis of SCA17 locus was performed using polymerase chain reaction. Results - None of the analyzed patients show the presence of mutation in SCA17 locus. In the group of patients 12 different alleles in the range of 30-42 repeats were observed, while in healthy population eight alleles in the range of 30-40 repeats were detected. Conclusion -(1) None of 115 non-related Yugoslav ataxic patients belong to any known SCAs nor to DRPLA gene; (2) the distribution of SCA17 alleles in the Yugoslav population is consistent with the distribution in other populations and (3) the paucity of alleles with more than 39 repeats could suggest that SCA17 is very rare in the Yugoslav population.

Original language	English
Journal	Acta Neurologica Scandinavica
Volume	109
Issue number	3
Pages (from-to)	185-187
Number of pages	3
ISSN	0001-6314
DOIs	https://doi.org/10.1034/j.1600-0404.2003.00196.x
Publication status	Published - 01.03.2004

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title = "Spinocerebellar ataxia type 17 in the Yugoslav population",

abstract = "Objectives - (1) Analysis of Spinocerebellar ataxia type 17 (SCA17) locus in a group of ataxic patients excluded on other known SCAs; (2) assessment of frequency distributions of SCA17 alleles in the Yugoslav population. Material and methods - Study includes 115 non-related Yugoslav patients belonging to autosomal-dominant cerebellar ataxias or to sporadic idiopathic adult-onset ataxia and 115 controls. Analysis of SCA17 locus was performed using polymerase chain reaction. Results - None of the analyzed patients show the presence of mutation in SCA17 locus. In the group of patients 12 different alleles in the range of 30-42 repeats were observed, while in healthy population eight alleles in the range of 30-40 repeats were detected. Conclusion -(1) None of 115 non-related Yugoslav ataxic patients belong to any known SCAs nor to DRPLA gene; (2) the distribution of SCA17 alleles in the Yugoslav population is consistent with the distribution in other populations and (3) the paucity of alleles with more than 39 repeats could suggest that SCA17 is very rare in the Yugoslav population.",

author = "A. Alendar and B. {\v C}uljkovi{\'c} and D. Savi{\'c} and A. Djarmati and M. Keckarevi{\'c} and A. Risti{\'c} and N. Draga{\v s}evi{\'c} and V. Kosi{\'c} and S. Romac",

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doi = "10.1034/j.1600-0404.2003.00196.x",

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T1 - Spinocerebellar ataxia type 17 in the Yugoslav population

AU - Alendar, A.

AU - Čuljković, B.

AU - Savić, D.

AU - Djarmati, A.

AU - Keckarević, M.

AU - Ristić, A.

AU - Dragašević, N.

AU - Kosić, V.

AU - Romac, S.

PY - 2004/3/1

Y1 - 2004/3/1

N2 - Objectives - (1) Analysis of Spinocerebellar ataxia type 17 (SCA17) locus in a group of ataxic patients excluded on other known SCAs; (2) assessment of frequency distributions of SCA17 alleles in the Yugoslav population. Material and methods - Study includes 115 non-related Yugoslav patients belonging to autosomal-dominant cerebellar ataxias or to sporadic idiopathic adult-onset ataxia and 115 controls. Analysis of SCA17 locus was performed using polymerase chain reaction. Results - None of the analyzed patients show the presence of mutation in SCA17 locus. In the group of patients 12 different alleles in the range of 30-42 repeats were observed, while in healthy population eight alleles in the range of 30-40 repeats were detected. Conclusion -(1) None of 115 non-related Yugoslav ataxic patients belong to any known SCAs nor to DRPLA gene; (2) the distribution of SCA17 alleles in the Yugoslav population is consistent with the distribution in other populations and (3) the paucity of alleles with more than 39 repeats could suggest that SCA17 is very rare in the Yugoslav population.

AB - Objectives - (1) Analysis of Spinocerebellar ataxia type 17 (SCA17) locus in a group of ataxic patients excluded on other known SCAs; (2) assessment of frequency distributions of SCA17 alleles in the Yugoslav population. Material and methods - Study includes 115 non-related Yugoslav patients belonging to autosomal-dominant cerebellar ataxias or to sporadic idiopathic adult-onset ataxia and 115 controls. Analysis of SCA17 locus was performed using polymerase chain reaction. Results - None of the analyzed patients show the presence of mutation in SCA17 locus. In the group of patients 12 different alleles in the range of 30-42 repeats were observed, while in healthy population eight alleles in the range of 30-40 repeats were detected. Conclusion -(1) None of 115 non-related Yugoslav ataxic patients belong to any known SCAs nor to DRPLA gene; (2) the distribution of SCA17 alleles in the Yugoslav population is consistent with the distribution in other populations and (3) the paucity of alleles with more than 39 repeats could suggest that SCA17 is very rare in the Yugoslav population.

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M3 - Journal articles

C2 - 14763955

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JO - Acta Neurologica Scandinavica

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Spinocerebellar ataxia type 17 in the Yugoslav population

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