Dystonia and parkinsonism: Not an easy combo

THAP1 gene variations have been classically associated with autosomal dominant focal, segmental and generalized dystonia with variable age at onset. The most frequently described sites of onset are arms and neck, being the latter the most frequently affected anatomical site. In over half of the patients dystonia can spread to the larynx or face, while isolated limb tremor, lower limb dystonia at onset, myoclonus, blepharospasm or isolated laryngeal dystonia are less commonly described [1].

Source: Parkinsonism and Related Disorders - January 14, 2024 Category: Neurology Authors: Marcela Montiel, Alfonso Fasano Source Type: research