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Suzanne Granhøj Lindquist

Publications and source records attributed to Suzanne Granhøj Lindquist.

2 recordsLinked to original sources

[Dementia--genetic aspects].

Several prevalent, sporadic neurodegenerative disorders also occur as rare inherited variants. Mapping of the genes involved in rare variants of the disorders has contributed to elucidating pathogenetic pathways for several dementia disorders, and the increased knowledge creates a possibility for development of new molecular genetic methods for diagnostics and for the treatment of the different types of dementia. Although inherited dementia disorders are generally rare, a genetic basis should always be considered when facing a patient with a recently clinically diagnosed dementia disorder.

Alzheimer Disease↗

Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case.

Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominantly inherited disorder characterized by cerebellar ataxia, dysarthria and nystagmus. The molecular background for the disorder is a CAG repeat expansion in the CACNA1A gene located on chromosome 19. The size of SCA6 expanded alleles is usually stable, and variation in repeat size over successive generations is rare. We report a Danish family with one case of SCA6 resembling a sporadic case of spinocerebellar ataxia. Analysis of the CACNA1A gene showed meiotic CAG repeat instability in the transmission from a 70-year-old woman with no subjective symptoms to her symptomatic son. The CAG repeat size expanded from 22 repeats in the mother to 23 repeats in the proband. This case demonstrates maternal repeat instability and clinical anticipation in a family with SCA6.

Aged↗