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. 2000 Jul;67(1):229-35.
doi: 10.1086/302958. Epub 2000 May 11.

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

A Herman-Bert  1 , G Stevanin, J C Netter, O Rascol, D Brassat, P Calvas, A Camuzat, Q Yuan, M Schalling, A Dürr, A Brice
Affiliations

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

A Herman-Bert et al. Am J Hum Genet. 2000 Jul.

Abstract

We examined a large French family with autosomal dominant cerebellar ataxia (ADCA) that was excluded from all previously identified spinocerebellar ataxia genes and loci. The patients-seven women and a 4-year-old boy-exhibited slowly progressive childhood-onset cerebellar gait ataxia associated with cerebellar dysarthria, moderate mental retardation (IQ 62-76), and mild developmental delays in motor acquisition. Nystagmus and pyramidal signs were also observed in some cases. This unique association of clinical features clearly distinguishes this new entity from other previously described ADCA. Cerebral magnetic-resonance imaging showed moderate cerebellar and pontine atrophy in two patients. We performed a genomewide search and found significant evidence for linkage to chromosome 19q13.3-q13.4, in an approximately 8-cM interval between markers D19S219 and D19S553.

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Figures

Figure 1
Figure 1
Partial pedigree of family AAD-045. Haplotypes for seven microsatellite markers spanning ∼8 cM on chromosome 19q are shown. The haplotype segregating with the disease is boxed. Recombination events are indicated by horizontal arrows. Stars indicate sampled individuals.
Figure 2
Figure 2
Cerebral MRI of patient IV-1 at age 5 years. The T1-weighted midsagital (left) and T2-weighted axial (right) sequences show atrophy in the dorsal part of the cerebellar vermis but normal hemispheres. The fourth ventricle is enlarged. Atrophy is visible in the posterior part of the pons and the medulla. The cerebral cortex is normal.
Figure 3
Figure 3
Multipoint linkage analysis with seven chromosome 19q markers: D19S219/D19S412–3 cM–D19S902/D19S606–1 cM–D19S867–2 cM–D19S585–2 cM–D19S553. Because of computer limitations, three overlapping multipoint calculations, using D19S219-D19S412-D19S902, D19S902-D19S606-D19S867, and D19S867-D19S585-D19S553, were performed to generate this curve. The LOD scores obtained in the overlapping regions were similar in all analyses.
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References

Electronic-Database Information

    1. Center for Medical Genetics, Marshfield Medical Research Foundation, http://www.marshmed.org/genetics
    1. Généthon, http://www.genethon.fr/
    1. Genome Database, The, http://www.gdb.org/
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nim.nih.gov/omim (for SCA1 [MIM 164400], SCA2 [MIM 183090], SCA3/MJD [MIM 109150], SCA4 [MIM 600223], SCA5 [MIM 600224], SCA6 [MIM 183086], SCA7 [MIM 164500], SCA8 [MIM 603680], SCA10 [MIM 603516], SCA11 [MIM 604432], and SCA12 [MIM 604326])

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