Table 1 Main clinical features
From: ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
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 | Â |