The 43 spinocerebellar ataxias: the complete checklists

Of all the disorders neurologists have to deal with, few have as many subtypes as spinocerebellar ataxia (SCA). Most neurologist are familiar with the more common SCAs-types 1,2,3,6, and 7. When pushed, SCA17 will pop into the mind…just because of its similarity to Huntington’s disease (HD).

The cerebellum: the brain’s locomotion control center. NIH Image Library on Flikr. https://www.flickr.com/photos/nihgov/26647148341

At the last count, there are 43 different forms of this hereditary disorder. It is therefore very likely that many people with SCA pass through neurology clinics, undiagnosed: there are just too many subtypes to sift through; they are just too complex to get a proper handle on.

由Project leader: Maryann Martone. Experimenters: Andrea Thor & Diana Price – Cell Centered Database, National Center for Microscopy and Imaging Research, University of CaliforniaMicroscopy product ID: 3Image basename: e1cb4a5,CC BY 3.0链接

 

The solution? You guessed it…checklists. Neurochecklists now has a checklist for each SCA. Here are the 43 SCAs and their known genes, linked to their checklist. Can’t go through them all? Then see the link to the summary checklist at the end.

SCA 1: ATXN1

SCA 2: ATXN2

SCA 3: ATXN3

SCA 4: gene unknown 

SCA 5: SPTBN2

SCA 6: CACNA1A

SCA 7: ATXN7

SCA 8: ATXN8

SCA 9: gene unknown

SCA 10: ATXN10

 

SCA 11: TTBK2

SCA 12: PPP2R2B

SCA 13: KCNC3

SCA 14: PRKCG

SCA 15: ITPR1

SCA 16: ITPR1

SCA 17: TBP

SCA 18: IFRD1

SCA 19: KCND3

SCA 20: gene unknown

 

SCA 21: TMEM240

SCA 22: KCND3

SCA 23: PYDN

SCA 24: now defunct

SCA 25: gene unknown

SCA 26: eEF2

SCA 27: FGF14

SCA 28: AFG3L2

SCA 29: ITPR1

SCA 30: ODZ3

 

SCA 31: BEAN and TK2

SCA 32: gene unknown

SCA 33: no information available

SCA 34: ELOVL4

SCA 35: TGM6

SCA 36: NOP56

SCA 37: gene unknown

SCA 38: ELOVL5

SCA 39: genomic duplication

SCA 40: CCDC88C

 

SCA 41: TRPC3

SCA 42: CACNA1G

SCA 43: MME

            

B0007837 Mouse purkinje neurons. Wellcome Images on Flikr. https://www.flickr.com/photos/wellcomeimages/6880271634

 

Feeling overwhelmed? Why not try the easy and practical summarising checklist:

Spinocerebellar ataxia (SCA): summary of key features

 

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