Key result
Levodopa markedly improves gait and reduces chorea in half of treated benign hereditary chorea patients.
Why the study?
A novel nonsense mutation in the TITF-1 gene causing benign hereditary chorea with congenital hypothyroidism was identified, and the therapeutic response to levodopa was unclear.
Does levodopa improve symptoms in patients with benign hereditary chorea caused by a TITF-1 mutation?
Comparison
Levodopa treatment versus no levodopa
Design
Case report of a pedigree
Authors
Loading...
May merit levodopa trial in select TITF-1 cases; hypothesis-generating and requires controlled validation before practice change.
Case Report (n=4)
Does levodopa improve symptoms in patients with benign hereditary chorea caused by a TITF-1 mutation?
Levodopa may be a useful therapeutic option for improving gait and reducing chorea in patients with benign hereditary chorea.
Asmus et al. (2005) conducted a case report in Benign hereditary chorea (BHC) and congenital hypothyroidism (n=4). Levodopa was evaluated on Improvement in gait and reduction in chorea. Treatment with levodopa dramatically improved gait and reduced chorea in two out of four patients with benign hereditary chorea caused by a novel TITF-1 mutation.