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Table 2 Clinical characteristics of autopsied patients with hereditary spastic paraplegia with a thin corpus callosum and mutations in SPG11

From: An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions

Patient

Sex

Mutation of the SPG11 gene

Age at death (years)

Age at onset of motor symptoms (years)

Time from motor symptom onset to clinical event (years)

Bedridden

Need for artificial ventilation

Death

Patient in Kuru, et al. (2005)

Male

#1 not examined in the patient

51

14

23

36

37

Patient 1 in Denora, et al. (2016)

Female

#2 in patient herself

32

12

Not described

Not needed

20

Patient 2 in Denora, et al. (2016)

Female

#3 not examined in the patient

46

10

< 35

Not needed

36

Patient 1 in Mori, et al. (2021)

Female

#4 in patient herself

57

25

15

Not needed

32

Present patient

Male

#5 in patient himself

44

13

12

13

31

  1. #1 IVS18+1G>T developed in sister
  2. #2 Two heterozygous truncating mutations; c.2358_2359delinsTT and c.4868delT
  3. #3 A homozygous truncating mutation, c.6739_6742delGAGT, developed in brother
  4. #4 Homozygous mutation, IVS18+1G>T
  5. #5 Homozygous splice site variant, c.4162-2A>G