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Page 8 of 31 Guerra et al. J Transl Genet Genom 2019;3:9. I https://doi.org/10.20517/jtgg.2018.03

Table 2. Genes associated with dysarthria in different medical conditions
Disease Ref. Type Gene Name Locus
Myasthenia [13-17] Flaccid IL-10 Interleukin 10 1q32.1
Gravis PTPN22 Protein tyrosine phosphatase non receptor type 22 1p13.2
CTLA4 Cytotoxic T-Lymphocyte Associated Protein 4 2q33.2
TNIP1 TNFAIP3-interacting protein 1 5q33.1
FOXP3 Forkhead Box P1 Xp11.23
HLA: HLA-A3,B7,DR2 (early-onset); HLA-A1,B8,DR3; HLA-DR4 (late-onset); HLA-DR14: HLA-
DQ5 (anti-MusK)
Prader Willi [13,19] Flaccid NDN Necdin 15q11.2
syndrome SNRPN Small nuclear ribonucleoprotein polypeptide N 15q11.2
Amyotrophic [13,18] Spastic/ DCTN1 Dynactin 1 2p13.1
Lateral Flaccid PRPH Peripherin 12q13.2
Sclerosis
SOD1 Superoxide dismutase 1 21q22.11
NEFH Neurofilament protein heavy polypeptide 22q12.2
Hereditary Spastic [26] Spastic PGN Paraplegin 16q24.3
Paraplegia SPG11 Spastic paraplegia 11 15q21.1
ZFYVE26 Zinc finger FYVE domain-containing protein 26 14q24.1
SPG24 Spastic paraplegia 24 13q14
SPG26 Spastic paraplegia 26 12q13.3
SPG27 Spastic paraplegia 27 10q22.1-q24.1
SLC16A2 Solute carrier family 16 member 2 Xq13.2
DDHD2 DDHD domain containing protein 2 8p11.23
GJC2 Gap junction protein gamma 2 1q42.13
C19orf12 Chromosome 19 open reading frame 12 19q12
Friedreich ataxia [20,25] Ataxic FXN Frataxin 9q21.11
Spinocerebelar [20,22-24] Ataxic ATAXIN1 Ataxin 1 6p22.3
ataxia ATAXIN2 Ataxin 2 12q24.12
ATAXIN3 Ataxin 3 14q32.12
SPTBN2 Spectrin beta nonerythrocytic 2 11q13.2
CACNA1A Calcium-channel voltage-dependent P/Q type alpha 1A subunit 19p13.42
ATXN7 Ataxin 7 15q15.2
PRKCG Protein kinase C, gamma 19q13.42
TTBK2 Tau tubulin kinase 2 15q15.2
SETX Senataxin 9q34.13
SPTBN2 Spectrin beta nonerythrocitic 2 11q13.2
SACS Sacsin 13q12.12
MRE11 Meiotic Recombination 11-Like Protein A 11q21
KCNC3 Potassium channel voltage-gated shaw-related subfamily 19q13.33
member 3
DARS2 Aspartyl-tRNA synthetase 2 1q25.1
Multiple [27,30-35] Spastic/ MS2 Multiple sclerosis, susceptibility to 2 10p15.1
Sclerosis Ataxic MS3 Multiple sclerosis, susceptibility to 3 5p13.2
MS4 Multiple sclerosis, susceptibility to 4 1p36
MS5 Multiple sclerosis, susceptibility to 5 12p13.31
ITGA4 Integrin alpha 4 2q31.3
SPP1 Secreted phosphoprotein 1 4q22.1
PSMC4 Protease 26s subunit ATPase 4 19q13.2
NLRP5 NLR family pyrin domain containing 5 19q13.43
CACNA1H Calcium-channel voltage-dependent t type alpha 1h subunit 16p13.3
PD1 Programmed cell death 1 2q37.3
EIF2AK1 Eukaryotic translation initiation factor 2 alpha kinase 1 7p22.1
MC1R Melanocortin receptor 16q24.3
HLA: HLA-A, HLA-DRB1, HLA-DQB1, HLA-DRA
Parkinson’s Disease [11,37-43] Hypok SNCA Synuclein alfa 4q22.1
PINK1 Pitein-induced putative kinase 1 1p36.12
LRRK2 Leucine-rich repeat kinase 2 12q12
PARK2 Parkin 6p26