Table 1.
Main clinical features
| Characteristics | Index cases | (%) |
|---|---|---|
| Sex | ||
| Female | 50 | 37% |
| Male | 85 | 63% |
| Age at onset | ||
| Child onset | 85 | 63% |
| Adult onset | 50 | 37% |
| Familial history | ||
| Sporadic | 84 | 62% |
| Familial | 51 | 38% |
| Consanguinity | 16 | 12% |
| Main clinical features | ||
| Pure spastic paraplegia | 22 | 16% |
| Pure cerebellar ataxia | 3 | 2% |
| Spastic paraplegia /ataxia spectrum | 110 | 81% |
| Spasticity or ataxia plus other symptoms | ||
| Neuropathy / lower motor neuron | 38 | 29% |
| Extrapyramidal symptoms | 18 | 14% |
| White matter involvement | 29 | 21% |
| Seizures | 14 | 11% |
| Cognitive impairment | 58 | 43% |
| Complementary exams | ||
| MRI | 83 | 62% |
| Metabolic assessment | 52 | 38% |
| Targeted genetic studies a | 85 | 63% |
| Karyotype / aCGH | 15 | 11% |
| TOTAL cases | 135 | |
Baseline characteristics and main clinical features of the ataxia / spastic paraplegia Cohort a Targeted sequencing or repeat expansion analysis for spinocerebellar ataxias, information available