Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism

F Magrinelli, S Mehta, G Di Lazzaro… - Movement …, 2022 - Wiley Online Library
Background Complex parkinsonism is the commonest phenotype in late‐onset PLA2G6‐
associated neurodegeneration. Objectives The aim of this study was to deeply characterize …

Tardive syndromes

D Savitt, J Jankovic - Journal of the neurological sciences, 2018 - Elsevier
Tardive syndromes are a group of hyperkinetic and hypokinetic movement disorders that
occur after some delay following exposure to dopamine receptor blocking agents such as …

Eye movement disorders in movement disorders

P Kassavetis, D Kaski, T Anderson… - Movement Disorders …, 2022 - Wiley Online Library
Oculomotor assessment is an essential element of the neurological clinical examination and
is particularly important when evaluating patients with movements disorders. Most of the …

A review of ocular complications associated with medications used for anxiety, depression, and stress

PA Constable, D Al-Dasooqi, R Bruce… - Clinical …, 2022 - Taylor & Francis
This review of commonly prescribed psychotropic drugs aims to update the clinician on
possible ophthalmic side effects that may include dry eye, diplopia, mydriasis, and cataracts …

Parkinsonism in children: Clinical classification and etiological spectrum

V Leuzzi, F Nardecchia, R Pons, S Galosi - Parkinsonism & related …, 2021 - Elsevier
Infantile-and childhood-onset parkinsonism is mainly due to genetic alterations and is an
exceedingly rare condition, unlike Parkinson's disease (PD), which is one of the most …

Spotlight on oculogyric crisis: a review

P Mahal, N Suthar, N Nebhinani - Indian Journal of …, 2021 - journals.sagepub.com
Background: Oculogyric crisis (OGC) is a form of acute dystonia characterized by sustained
dystonic, conjugate, and upward deviation of the eyes. It was initially reported in patients …

[PDF][PDF] Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency

Y Onuki, S Ono, T Nakajima, K Kojima… - Brain …, 2021 - academic.oup.com
Aromatic l-amino acid decarboxylase (AADC) is an essential dopamine-synthesizing
enzyme. In children with AADC deficiency, the gene delivery of AADC into the putamen …

[HTML][HTML] Dystonic reactions

K Lewis, CS O'Day - 2018 - europepmc.org
Objectives: Outline some medications commonly associated with dystonic reactions. Review
how to evaluate a patient with a dystonic reaction. Explain how to properly manage a patient …

Symptoms and impact of aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a patient-centred conceptual model

K Williams, H Skrobanski, C Werner… - Current Medical …, 2021 - Taylor & Francis
Background Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare neurological
condition, with an estimated global prevalence of 1: 32,000 to 1: 90,000 live births. AADC …

Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report

H Wang, J Li, J Zhou, L Dai, C Ding, M Li… - Frontiers in …, 2022 - frontiersin.org
Background Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal
recessive neurometabolic disorder with heterogeneous phenotype, including hypotonia …