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Camptocormia, axial dystonia, and parkinsonism: Phenotypic heterogeneity of a parkin mutation

Autosomal recessive juvenile parkinsonism (AR-JP) is a young-onset parkinsonism caused by mutations in the parkin gene.1 Exonic deletions or multiplications and truncating and missense mutations have been described.2,3⇓ The phenotype encompasses juvenile-, early-, and late-onset patients.2 We describe a large kindred with different phenotypic expressions of a mutation in the parkin gene.

The patients belonged to two branches of an Arabic Israeli family (figure). Patients in Branch A have been previously described.4 The consanguinity of the branches was established to the seventh ancestral generation. 



Figure. The pedigree. Square symbols = men, circles = women, diagonal lines = deceased persons, ✓ = genotyped. The consanguinity of the branches of the family was established to the seventh ancestral generation. Four brothers (black squares) in Branch A (right) and two first-degree cousins (black square and circle) in Branch B (middle) are affected. All patients showed homozygous one adenine deletion at nucleotide position 202. The horizontal shaded symbols represent patients with tremor only who were clinically examined. The patient with an asterisk was genotyped …