Repeat expansion diseases
Evidence-based neurology checklist on repeat expansion diseases: CAG trinucleotide repeat disorders Huntington’s disease (HD) Dentatorubral pallidolyusian atrophy (DRPLA) Spinal and bulbar muscular atrophy (Kennedy disease) Spinocerebellar ataxia (SCA 1,2,3,6,7,12,17) CTG trinucleotide repeat…
CAG trinucleotide repeat disorders
- Huntington’s disease (HD)
- Dentatorubral pallidolyusian atrophy (DRPLA)
- Spinal and bulbar muscular atrophy (Kennedy disease)
- Spinocerebellar ataxia (SCA 1,2,3,6,7,12,17)
CTG trinucleotide repeat disorders
Other trinucleotide repeat disorders
Pentanucleotide repeat disorders
Other repeat disorders
References
- Bhidayasiri R, Waters MF, Giza CC. Neurological Differential Diagnosis. A Prioritized Approach. Blackwell Publishing Massachusetts 2005 pp387-389.
- Everett CM, Wood NW. Trinucleotide repeats and neurodegenerative disease. Brain 2004; 127:2385-2405.
- Fan HC, Ho LI, Chi CS, et al. Polyglutamine (PolyQ) diseases: genetics to treatments. Cell Transplant 2014; 23:441-458.
- Paulson H. Repeat expansion diseases. Handb Clin Neurol 2018; 147:105-123.
- Loureiro JR, Castro AF, Figueiredo AS, Silveira I. Molecular mechanisms in pentanucleotide repeat diseases. Cells 2022; 11:205.
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