[HTML][HTML] Monogenic Parkinson's disease: genotype, phenotype, pathophysiology, and genetic testing

F Jia, A Fellner, KR Kumar - Genes, 2022 - mdpi.com
Genes | Free Full-Text | Monogenic Parkinson’s Disease: Genotype, Phenotype,
Pathophysiology, and Genetic Testing Next Article in Journal enChIP-Seq Analyzer: A …

Pallidal deep brain stimulation for monogenic dystonia: the effect of gene on outcome

S Tisch, KR Kumar - Frontiers in neurology, 2021 - frontiersin.org
Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention
for medically refractory segmental and generalized dystonia in both children and adults …

Deep brain stimulation in dystonia: factors contributing to variability in outcome in short and long term follow-up

S Tisch - Current Opinion in Neurology, 2022 - journals.lww.com
Deep brain stimulation in dystonia: factors contributing to... : Current Opinion in Neurology
Deep brain stimulation in dystonia: factors contributing to variability in outcome in short and …

Differential response to pallidal deep brain stimulation among monogenic dystonias: systematic review and meta-analysis

CA Artusi, A Dwivedi, A Romagnolo… - Journal of Neurology …, 2020 - jnnp.bmj.com
Objective Genetic subtypes of dystonia may respond differentially to deep brain stimulation
of the globus pallidus pars interna (GPi DBS). We sought to compare GPi DBS outcomes …

Expanding data collection for the MDSGene database: X‐linked dystonia‐parkinsonism as use case example

MG Pauly, M Ruiz Lopez, A Westenberger… - Movement …, 2020 - Wiley Online Library
MDSGene is an online database on movement disorders that collates genetic and clinical
knowledge using a standardized published literature abstraction strategy. This review is …

X‐linked parkinsonism: phenotypic and genetic heterogeneity

G Di Lazzaro, F Magrinelli, C Estevez‐Fraga… - Movement …, 2021 - Wiley Online Library
X‐linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a
recessive trait, therefore being more prevalent in males. Recent developments have …

Combined dystonias: clinical and genetic updates

A Weissbach, G Saranza, A Domingo - Journal of Neural Transmission, 2021 - Springer
The genetic combined dystonias are a clinically and genetically heterogeneous group of
neurologic disorders defined by the overlap of dystonia and other movement disorders such …

Transcranial magnetic resonance-guided focused ultrasound in X-linked dystonia-Parkinsonism

RDG Jamora, WC Chang, T Taira - Life, 2021 - mdpi.com
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative condition found among males
with maternal ancestry from Panay Island, Philippines. The treatment options are limited. We …

X-linked dystonia-parkinsonism: recent advances

DC Bragg, N Sharma, LJ Ozelius - Current opinion in neurology, 2019 - journals.lww.com
The discovery that XDP is linked to a polymorphic hexameric sequence suggests that it
could share mechanisms with other DNA repeat disorders, whereas the transcriptional …

Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson's disease and monogenic dystonia: a multidisciplinary team …

V Rački, M Hero, E Papić, G Rožmarić… - Frontiers in …, 2023 - frontiersin.org
In this perspective article, we highlight the possible applicability of genetic testing in
Parkinson's disease and dystonia patients treated with deep brain stimulation (DBS). DBS, a …