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Updated: Aug 24, 2026
Visualizing the DNA Damage Response in Purkinje Cells Using Cerebellar Organotypic Cultures
Published on: December 27, 2024
[From gene to disease; autosomal dominant cerebellar ataxias]
H P Kremer1, B P van de Warrenburg, R J Sinke
1Universitair Medisch Centrum St Radboud, afd. Neurologie, Postbus 9101, 6500 HB Nijmegen.
Abstract:
The autosomal dominant cerebellar ataxias (ADCAs) are a clinically homogeneous, yet genetically heterogeneous group of cerebellar neurodegenerative disorders for which at least 20 genes or loci have been identified to date. Trinucleotide repeat expansions constitute the predominant pathogenic mutations in about two-thirds of Dutch families with ADCAs, even though the mutational mechanisms are variable as well.
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