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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