The 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, and they are just too complex to get a proper handle on. The solution? You guessed it…checklists. Neurochecklists now has a checklist for every SCA. Here then are the complete spinocerebellar ataxia checklists…and their genes.

 

CC BY 3.0链接

 

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? Can’t go through them all? Why not try this easy and practical summarising checklist:

Spinocerebellar ataxia (SCA): summary of key features

 

***

To explore these and many other comprehensive neurology checklists…

Go online at Neurochecklists.com

 

Or get the book, 700 Essential Neurology Checklists

One thought on “The spinocerebellar ataxias: the complete checklists

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s