Ataxias

Ataxias are a group of neurological conditions most often related to degeneration of the cerebellum, the area of the brain responsible for coordinating movement. Clinical symptoms can include lack of coordination, stumbling or unsteady walking, difficulty performing fine motor skills (such as writing, eating), difficulty swallowing, speech changes and uncontrolled eye movements. Age of onset can vary widely, from childhood to late adulthood.

With its single method approach to detecting and analyzing tandem repeat expansions, structural variants and small sequence changes, Genomic Unity® Movement Disorders Analysis is an effective test for diagnosis of ataxias that provides more comprehensive coverage of ataxia-related genes than other tests.

The following ataxia genes are screened as part of the Genomic Unity® Movement Disorders Analysis.  A ♦ indicates that tandem repeat expansion analysis is performed for that gene.

 

Spinocerebellar ataxias
Disorder Gene
Spinocerebellar ataxia 1 ATXN1
Spinocerebellar ataxia 2 ATXN2
Spinocerebellar ataxia 3 ATXN3
Spinocerebellar ataxia 5 SPTBN2
Spinocerebellar ataxia 6 CACNA1A
Spinocerebellar ataxia 7 ATXN7
Spinocerebellar ataxia 8 ATXN8OS
Spinocerebellar ataxia AR 8 SYNE1
Spinocerebellar ataxia 10 ATXN10
Spinocerebellar ataxia AR 10 ANO10
Spinocerebellar ataxia 11 TTBK2
Spinocerebellar ataxia AR 11 SYT14
Spinocerebellar ataxia 12 PPP2R2B
Spinocerebellar ataxia 13 KCNC3
Spinocerebellar ataxia AR 13 GRM1
Spinocerebellar ataxia 14 PRKCG
Spinocerebellar ataxia AR 16 STUB1
Spinocerebellar ataxia 19 KCND3
Spinocerebellar ataxia AR 20 SNX14
Spinocerebellar ataxia 23 PDYN
Spinocerebellar ataxia 26 EEF2
Spinocerebellar ataxia 27 FGF14
Spinocerebellar ataxia 28 AFG3L2
Spinocerebellar ataxia 29 ITPR1
Spinocerebellar ataxia 34 ELOVL4
Spinocerebellar ataxia 35 TGM6
Spinocerebellar ataxia 38 ELOVL5
Spinocerebellar ataxia 42 CACNA1G
Spinocerebellar ataxia with neuropathy 43 MME
Spinocerebellar ataxia 48 STUB1
Spinocerebellar ataxia, AR with axonal neuropathy TDP1
Spinocerebellar ataxia, infantile-onset TWNK
Spinocerebellar ataxia, X-linked 1 ATP2B3
Spastic ataxias
Disorder Gene
Spastic ataxia 1 VAMP1
Spastic ataxia 4 MTPAP
Spastic ataxia 5 AFG3L2
Spastic ataxia, Charlevoix-Saguenay type SACS
Episodic ataxias
Disorder Gene
Episodic ataxia 1 KCNA1
Episodic ataxia 2 CACNA1A
Episodic ataxia 5 CACNB4
Epidsodic ataxia 6 SLC1A3
Other ataxias
Disorder Gene
Ataxia-Telangiectasia ATM
Ataxia-Telangiectasia like syndrome MRE11
Dentatorubral-pallidoluysian atrophy (DRPLA) ATN1
Friedreich’s ataxia FXN
Ataxia with oculomotor apraxia, type I APTX
Ataxia with oculomotor apraxia, type II SETX
Ataxia, posterior column, with retinitis pigmentosa FLVCR1
Ataxia with vitamin E deficiency TTPA
Coenzyme Q10 deficiency, primary, 4 COQ8A
Marinesco-Sjogren syndrome SIL1
Mitochondrial recessive ataxia syndrome POLG
Sideroblastic anaemia and ataxia ABCB7
Additional ataxia-associated genes

CAPN1, CWF19L1, GRID2, PEX10, POLR3A, RNF216, SCN2A, SPG7

 

Notes about testing

Genomic Unity® Movement Disorders Analysis does not currently detect tandem repeat expansions in the following genes:

  •  BEAN1 - TGGAA expansion causes spinocerebellar ataxia 31 which is most prevalent in Japan and extremely rare in other asian and Western countries
  •  DAB1 - ATTTC expansion causes spinocerebellar ataxia 37 which has only been found in Spain and Portugal

Additional resources

National Ataxia Foundation

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