Neurocognitive profile of patients with X-linked dystonia-parkinsonism

• Published in: Journal of Neural Transmission 2021-05, Vol.128 (5), p.671-678
• Main Authors: Jamora, Roland Dominic G., Suratos, Cezar Thomas R., Bautista, Jesi Ellen C., Ramiro, Gail Melissa I., Westenberger, Ana, Klein, Christine, Ledesma, Lourdes K.
• Format: Article
• Language: English
• Subjects: Medicine; Medicine & Public Health; Neurology; Neurology and Preclinical Neurological Studies - Original Article; Neurosciences; Psychiatry
• ISSN: 0300-9564; 1435-1463
• DOI: 10.1007/s00702-021-02317-z

X-linked dystonia-parkinsonism (XDP) is a debilitating movement disorder endemic to the Panay Island, Philippines. Most studies focus on motor symptoms, hence we reviewed the neurocognitive profile of XDP patients. Neurocognitive testing of XDP patients focused on five domains: general intellectual functioning, episodic memory, language, attention and executive function, and affect. Twenty-nine genetically confirmed patients were included. Twenty-six (89.6%) had impairments in one or more domains, while only three had no impairment in any domain. Attention and executive function was the most commonly affected domain ( n  = 23, 79.3%). Deficits in general intellect, episodic memory, attention and executive function and affect were seen in our subset of XDP patients. The striatal pathology affecting the frontostriatal circuitry mandating these cognitive processes is mainly implicated in these impairments. The results of our study provided further evidence on the extent of cognitive impairment in XDP using a select battery of neurocognitive tests.