"Spinocerebellar ataxias (SCAs) comprise a large and expanding group of neurogenetic diseases characterised by degeneration of the spinal cord and cerebellum. There are over fifty individual spinocerebellar ataxias, referred to sequentially as SCA1, SCA2, ..., etc., roughly in their order of discovery and genetic characterisation 2."
"SCA1: CAG repeat in ATXN1"
"SCA2: CAG repeat in ATXN2"
"SCA3: CAG repeat in ATXN3"
"SCA4: GGC repeat in ZFHX3"
"SCA6: CAG repeat in CACNA1A"
"SCA7: CAG repeat in ATXN7"
"SCA8: CTG/CAG repeat in ATXN8/ATXN8OS"
"SCA10: ATTCT repeat in ATXN10"
"SCA12: CAG repeat in PPP2R2B"
"SCA17: CAG repeat in TBP"
"SCA27B: GAA repeat in FGF14"
"SCA31: TGGAA repeat in BEAN1"
"SCA36: GGCCTG repeat in NOP56"
"SCA37: ATTTC repeat in DAB1"
"SCA51: CAG repeat in THAP11"
"SCA4: GGC repeat in ZFHX3"
"SCA27B: GAA repeat in FGF14"
"SCA31: TGGAA repeat in BEAN1"
"SCA37: ATTTC repeat in DAB1"
"Although individual spinocerebellar ataxias vary in morphological changes, atrophy of the cerebellum, often vermian, is a relatively constant finding. Extracerebellar regions are also affected, depending on the specific SCA 1. Examples of radiological patterns of involvement include:"
"Friedreich ataxia"
"Spinocerebellar ataxias (SCAs) comprise a large and expanding group of neurogenetic diseases characterised by degeneration of the spinal cord and cerebellum. There are over fifty individual spinocerebellar ataxias, referred to sequentially as SCA1, SCA2, ..., etc., roughly in their order of discovery and genetic characterisation 2."
"Spinocerebellar ataxias are inherited autosomal dominant conditions 4. Many, including the common types, are repeat expansion disorders 4. Among the repeat expansion spinocerebellar ataxias, the common forms (i.e. SCA1, SCA2, SCA3, and SCA6) are polyglutamine repeats due to exonic CAG repeats 4,11,16. However, other repeat expansions occur in rarer SCAs 8,11,12,16."
"the hot cross bun sign may be seen in SCA1, SCA2, SAC3, SCA6, SCA7, SCA8, SCA34 7"
"pontine atrophy may be seen in SCA1, SCA2, SCA3, SCA7, SCA8, SCA13, SCA17, SCA23, SCA34, SCA36, SCA40 7"