Neuropsychological Profile of a Filipino Gentleman with X-Linked Dystonia–Parkinsonism: A Case Report of Lubag Disease

Abstract

X-Linked Dystonia-Parkinsonism (XDP or "Lubag") is a progressive neurodegenerative disorder unique to the Island of Panay in the Philippines. Imaging and autopsy studies have suggested involvement of the caudate and putamen in late stages. Because the clinical presentation of patients with XDP resembles that of patients with Parkinson disease or dystonia, it is reasonable to predict the neuropsychological profile might be similar; however, the neuropsychological profile of a XDP patient has not previously been published. We present the neuropsychological findings of a 67-year-old gentleman with a 10-year history of XDP who presented with parkinsonian and dystonic symptoms. He was evaluated for suitability for deep brain stimulation surgery. Neuropsychological findings demonstrated diffuse impairment involving memory, visuospatial, language, and executive functioning.

Differential Response of Dystonia and Parkinsonism following Globus Pallidus Internus Deep Brain Stimulation in X-Linked Dystonia-Parkinsonism (Lubag)

“…We report our experience with GPi-DBS in XDP, and we discuss the varying responses of parkinsonism and dystonia to DBS. We previously reported this patient's detailed preoperative clinical features and diffuse cognitive impairment [7] .…”

Pre- and Post- GPi DBS Neuropsychological Profiles in a Case of X-Linked Dystonia-Parkinsonism

“…The current 1 year post-DBS neuropsychological assessment was his third assessment, with his first two pre-operative testing sessions reported previously (see Howe et al, 2009). RA was born in the island of Panay in the Philippines.…”

“…RA’s previous two neuropsychological evaluations (Howe et al, 2009) were conducted 27 months prior to the current evaluation. The first evaluation noted concerning cognitive impairment across multiple domains, including processing speed, mental flexibility, verbal episodic memory, language-related tasks (naming and fluency), and problem solving.…”

“…The patient, named here as “RA”, was initially discussed in 2009 during our report on his neuropsychological profile (Howe, Kellison, Fernandez, Okun, & Bowers, 2009). At the time of those pre-operative evaluations in 2008, RA was found to be markedly cognitively impaired.…”

“…RA is therefore a unique individual for pre- to post-surgery DBS comparison. We compare the pre cognitive profile reported by Howe et al (2009) to RA’s recent post-operative cognitive and emotional profiles 1 year following bilateral DBS implantation (27 months after the initial evaluation).…”