Table 1: Clinical and genetical characteristics of SPG76 cases reported in the literature.

EthnicityAge at onsetAge at diagnosisGenderLower limbs spasticityUpper limbs spasticityAtaxiaDysarthriaOculomotor ImpairmentExon or Intron affectedMutationTypeHeterozygous /HomozygousConsanguinityBrain MRINCS and SSEP

1Latin AmericanNANANA++----c.1176G>A
p.Trp392∗
Stop gain mutationHomozygous+NANA

2Latin AmericanNANANA++----c.1176G>A
p.Trp392∗
NAHomozygous+NANA

3Latin AmericanNANANA++----c.1176G>A
p.Trp392∗
NAHomozygous+NANA

4Latin American2237F++----c.1176G>A
p.Trp392∗
NAHomozygous-NANA

5Caucasian2046F+++---c.675C>A
p.Tyr225∗
Novel LoF MutationHomozygous-NANA

6Caucasian3551M+++---c.675C>A
p.Tyr225∗
Novel LoF MutationHomozygous-NANA

7Latin American3042F+++---c.1176G>A
p.Trp392∗
c.618_619delAG
p.Gly208Glnfs∗7
LoF MutationHeterozygous+NANA

8Latin American38-M+++---c.1176G>A
p.Trp392∗
LoF MutationHomozygous+NANA

9Arab2031F++-+-Ex:8c.884G>C
p.Arg295Pro
LoF MutationHomozygous+NANormal

10ArabNANANANANANANANAEx:8c.884G>C
p.Arg295Pro
LoF MutationHomozygous+NANA

11ArabNANANANANANANANAEx:8c.884G>C
p.Arg295Pro
LoF MutationHomozygous+NANA

12Arab3547M++-+-Ex:14c.1579C>T
p.Gln527
Stop variantHomozygous+NAModerate Sensory Axonal Neuropathy

13Arab3644F++++-Ex:14c.1579C>T
p.Gln527
Stop variantHomozygous+NAModerate Sensory Axonal Neuropathy

14Arab2242M++-+-Ex:14c.1579C>T
p.Gln527
Stop variantHomozygous+NormalNA

15Arab3940M++++-Ex:14c.1579C>T
p.Gln527
Stop variantHomozygous+NANA

16ArabNANANANANANANANAEx:14c.1579C>T
p.Gln527
Stop variantHomozygous+NANA

17ArabNANANANANANANANAEx:14c.1579C>T
p.Gln527
Stop variantHomozygous+NANA

18ArabNANANANANANANANAEx:14c.1579C>T
p.Gln527
Stop variantHomozygous+NANA

19Caucasian2430F+----Ex:4c.406delC
p.Pro136Argfs∗40
DeletionHeterozygous-NANormal

20Caucasian3335M+----Ex:4c.406delC
p.Pro136Argfs∗40
DeletionHeterozygous-Atrophy of spinal cordNA

21Caucasian1922F+++--Ex:4c.1605+5G>AMutation SplicingHeterozygous-NormalNA

22Indian3343F++++-Ex:3c.337+1G>ASplice MutationHomozygous+Mild cerebellar atrophyNormal

23IndianNANAFNANANANANAEx:3c.337+1G>ASplice MutationHomozygous+NANA

24Caucasian2939F+++++Ex:6c.759+1G>ADonor splice siteHomozygous+Mild cerebellar vermal atrophyNA

25Caucasian3337F++++-Ex:6c.759+1G>ADonor splice siteHomozygous+NANA

26Caucasian516M+-----c.221GNA/
p.(G74D)
c.911CNT/
p.(T304M)
c.1418GNT/
p.(R473L)
missenseHeterozygous-NormalNormal

27Arab2137F++++--c.994G>A
P.Gly.332Arg
NAHomozygous+NormalNormal

28Arab3054F++++-Ex10c. 1176G>A
p. Trp392
Nucleotide substitutionHeterozygous+NormalNormal

29Arab1530F++++-Ex:10c. 1176G>A
p. Trp392
Nucleotide substitutionHeterozygous+NormalNormal

30Asian3742F+++---c.2118+1G>TDonor Splice siteHomozygousNANANA

31Caucasian2323M+-----c.397C>TNAHomozygous+NANA

32Caucasian2020F+-----c.397C>TMutation in DYSFHomozygous+NANA

33Asian3737M+++---c.843+1G>CDonor Splice SiteHomozygous+NANA

34Caucasian1314F+++--Ex: 13c.1534C>T
p.Arg512Cys
NAHomozygous-Small midbrain and ponds, cerebellar atrophyDelayed cortical wave defective conduction of large sensory fibers

35 (our case)Latin American2338F+++++In: 12 and 16c.1729+1G>A
c.1353+2T>C
Donor Splice MutationHeterozygousNANormalNA

Abbreviations. F: female, M: male, +: present, -: absent, LoF: loss of function, DYSF: dysferlin, MRI: magnetic resonance image, C: cerebral, S: spinal, NCS: nerve conduction studies, SSEP: somatosensory evoked potentials, NA: not available.