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Table 3 Cases with CAG repeats in the intermediate range (27–35) and their relatives with other CAG repeats

From: Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre

Patient Sex CAG repeats Family history Clinical manifestations
A1 A2
1 Male 17 29 HD confirmed two siblings
Relatives Male 19 44 Brother Depression
Female 17 44 Sister Essential tremor, bradykinesia, stiffness in the upper right limb
Female 17 19 Sister
2a Male 16 43 Negative Generalized dystonia, multiple motor tics
Relatives Male 19 33 Father
Female 17 33 Sister
  Male 17 33 Brother
3 Female 18 27 Negative Generalized choreic movements, muscle contractions
4 Female 17 31 HD suspected father and paternal aunts Depression, anxiety, phobia, chronic stress
5 Male 18 34 Negative Progressive instability, choreic movements and restlessness
  1. Distribution of cases by genetic results of intermediate allele and family history in predictive and diagnostic test performed. A1 allele, A2 allele 2. aIn this case, the proband (patient 2) presented an allele in the full penetrance range, being his relatives the carriers of the intermediate allele