Table 1 Summary of known neurological diseases caused by short tandem repeat expansions

C9-FTD

C9-ALS

(#10550)

C9orf72

AD

GGGGCC

5’ Region

24–4000

chr9

27573485

27573546

Frontotemporal dementia, amyotrophic lateral sclerosis

[32, 47, 65]

CANVAS

(#614575)

RFC1

AR

(AAGGG)_400–2000

(ACAGG)_exp

AAAAG (normal)

Intron 2

400–2000

chr4

39348425

39348483

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome

[11, 28, 138]

DM1

(#160900)

DMPK

AD

CTG

(Interruptions: CCG)

3’ Region

50–10,000

chr19

45770205

45770266

Myotonic dystrophy 1

[60, 176]

DM2

(#602668)

CNBP (ZNF9)

AD

CCTG

Intron 1

50–11,000

chr3

129172577

129172656

Myotonic dystrophy 2

[176]

DRPLA

(#125370)

ATN1

AD

CAG

Exon 5

49–93

chr12

6936717

6936775

Dentatorubral-pallidoluysian atrophy

[78]

EIEE1/XLID

(#308350)

(#300419)

(#300215)

ARX

XL

GCC

Exon 2

17–27

chrX

25013654

25013697

Clinical spectrum of disorders including developmental and epileptic encephalopathy 1, hydranencephaly with abnormal genitalia, X-linked lissencephaly 2 and X-linked mental retardation 29

[73, 150]

FAME1 (#601068)

SAMD12

AD

TTTCA

within TTTTA repeat region

Intron 4

105–3680

chr8

118366813

118366918

Familial adult myoclonic epilepsy 1

[22, 68]

FAME2

(#607876)

STARD7

AD

ATTTC

within ATTTT repeat region

Intron 1

150–460

chr2

96197067

96197124

Familial adult myoclonic epilepsy 2

[27]

FAME3

(#613608)

MARCHF6

AD

TTTCA

within TTTTA repeat region

Intron 1

700–1035

chr5

10356339

10356411

Familial adult myoclonic epilepsy 3

[40]

FAME6

(#618074)

TNRC6A

AD

TTTCA

within TTTTA repeat region

Intron 1

?

(only 1 family)

chr16

24613439

24613532

Familial adult myoclonic epilepsy 6

[68]

FAME7

(#618075)

RAPGEF2

AD

TTTCA

within TTTTA repeat region

Intron 14

?

(only 1 family)

chr4

159342527

159342618

Familial adult myoclonic epilepsy 7

[68]

FRAXE

(#309548)

FMR2 (AFF2)

XLR

CCG

5’ Region

 > 200

chrX

148500605

148500753

Mental retardation, X-linked, FRAXE type

[53]

FRDA

(#229300)

FXN

AR

GAA

Intron 1

66–1300

chr9

69037275

69037314

Friedreich ataxia

[5, 19, 162]

FXS

(#300624)

FXTAS

(#300623)

FMR1

XL

CGG

5’ Region

200–3000

55–200

chrX

147911979

147912111

Fragile X syndrome

Fragile X tremor/ataxia syndrome, premature ovarian failure 1

[162]

[56]

HD

(#143100)

HTT

AD

CAG

(Interruptions: CAA)

Exon 1

36–250

chr4

3074876

3074941

Huntington disease

[96, 101]

HDL1

(#603218)

PRNP

AD

24-base

octapeptide PHGGGWGQ

Exon 2

8–14

chr20

4699379

4699380

Huntington disease-like 1

[108]

HDL2

(#606438)

JPH3

AD

CTG

Exon 2A

40–59

chr16

87604283

87604329

Huntington disease-like 2

[62]

HMN

VWA1

AR

GGCGCGGAGC

Exon 1

3

chr1

1435799

1435820

Hereditary axonal motor neuropathy

[121]

NIID

(#603472)

NOTCH2NLC

AD

CGG

5' Region

66–517

chr1

149390803

149390842

Neuronal intranuclear inclusion disease

[55, 118, 146]

OPDM1

(#164310)

LRP12

AD

CGG

5' Region

90–130

chr8

104588965

104588999

Oculopharyngodistal myopathy

[69]

OPDM2

(#618940)

GIPC1

AD

CGG

5’ Region

70–164

chr19

14496029

14496104

Oculopharyngodistal myopathy

[172]

OPMD

(#164300)

PABPN1

AD

GCG

Exon 1

7–18

chr14

23321472

23321511

Oculopharyngeal muscular dystrophy

[15, 129]

OPML1

(#618637)

NUTM2B-AS1

AD

CGG

5' Region

16–160

chr10

79826364

79826403

Oculopharyngeal myopathy with leukoencephalopathy 1

[69]

SBMA

(#313200)

AR

XLR

CAG

Exon 1

38–68

chrX

67545317

67545419

Spinal and bulbar muscular atrophy of Kennedy (Kennedy's disease)

[44, 82, 147]

SCA1

(#164400)

ATXN1

AD

CAG

(Interruptions: CAT)

Exon 8

39–91

chr6

16327636

16327723

Spinocerebellar ataxia 1

[120, 141]

SCA2

(#183090)

ATXN2

AD

CAG

(Interruptions: CAA, CGG, CGC)

Exon 1

33–200

(29–32

increased ALS risk)

chr12

111598950

111599019

Spinocerebellar ataxia 2

[18, 133, 141, 148]

SCA3

(#109150)

ATXN3

AD

CAG

Exon 10

53–87

chr14

92071011

92071052

Spinocerebellar ataxia 3

[74]

SCA6

(183086)

CACNA1A

AD

CAG

Exon 47

19–33

chr19

13207858

13207897

Spinocerebellar ataxia 6

[141, 181]

SCA7

(#164500)

ATXN7

AD

CAG

Exon 1

34–460

chr3

63912685

63912716

Spinocerebellar ataxia 7

[18, 30]

SCA8

(#608768)

ATXN8

AD

CAG/TAG

3’ UTR

74–1300

chr13

70139383

70139428

Spinocerebellar ataxia 8

[79, 141, 155]

SCA10

(#603516)

ATXN10

AD

ATTCT

(Interruptions: ATCCT)

Intron 9

280–4500

chr22

45795355

45795424

Spinocerebellar ataxia 10

[88, 100, 141]

SCA12

(#604326)

PPP2R2B

AD

CAG

5’ Region

51–78

chr5

146878729

146878758

Spinocerebellar ataxia 12

[63, 94, 141]

SCA17

(#607136)

TBP

AD

CAG

(Interruptions: CAT, CAA)

Exon 3

43–66

chr6

170561907

170562017

Spinocerebellar ataxia 17, Huntington disease-like 4

[97, 115, 141]

SCA31

(#117210)

BEAN1

AD

TGGAA

within TAAAA and TAGAA repeat region

Intron/

Intergenic region

500–760

(> 110 TGGAA repeats)

chr16

66495475

66495509

Spinocerebellar ataxia 31

[134]

SCA36

(#614153)

NOP56

AD

GGCCTG

Intron 1

650–2500

chr20

2652733

2652775

Spinocerebellar ataxia 36

[77]

SCA37

(#615945)

DAB1

AD

ATTTC

within (ATTTT)_7–400 repeat region

5’ Region

31–75

chr1

57367044

57367125

Spinocerebellar ataxia 37

[139]

ULD

(#254800)

CSTB

AR

CCCCGCCCCGCG

Upstream

5’ UTR

30–125

chr21

43776444

43776479

Progressive myoclonic epilepsy 1A (Unverricht and Lundborg disease)

[87, 91]