Table 1

Demographic, genetic and clinical data for the SPG11 patients included in the study

Patient NoMutationAge (years)Duration (years)GenderPNParkinsonismDementiaMMSESPRS
1c. 529_533delATATT (Exon 3)1913F+++1437
2c.733_734delAT (Exon 4)3115M++++1938
3c.704_705delAT (Exon 4)2314F++1832
4c.118C>T (Exon 1)215M++2319
5c.A7256G/c. 733_734delAT (Exon 40/Exon 4)2413F++2226
  • MMSE, Mini-Mental State Examination; PN, peripheral neuropathy; SPRS, Spastic Paraplegia Rating Scale.