Objective: To discuss clinical and genetic characteristics and therapeutic findings in a family with  Benign Hereditary Chorea(BFC).

Background: Benign hereditary chorea (BHC) is a mild movement disorder. This autosomal recessive disease is due to a mutation of the NKX2-1 gene on chromosome 14(also known as TTF-1 gene).

Method: Clinical, neuro-imaging and genetic findings were collected in three members of a tunisian family.

Results: We followed up in our department three affected members of one family: two siblings and their father. Both siblings, from consanguineous marriage, had a global motor delay with gait disorders. At the age of 18 months ,the boy presented generalized dystonia with chorea ,motor tics and pyramidal signs. His younger sister had a similar clinical phenotype with an age of onset at 5 years . the father had a less severe chorea and mild mental retardation . The biological examinations revealed a subclinical hypothyroidism in both siblings. A brain MRI and a complete metabolic assessment were ordered and showed no abnormalities. The genetic study revealed a mutation in the NKX2-1 gene  in these three affected family members. Those siblings were improved with low doses of Haloperidol.

Conclusion: This  family case illustrates the rich phenomenology of NKX2-1-related disorders as well as the intrafamilial variation of clinical phenotypes.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/benign-hereditary-chorea-a-tunisian-family-case-presentation/