Results 81 to 90 of about 6,098 (248)

Genetically confirmed first Indian dentatorubral–pallidoluysian atrophy kindred: A case report

open access: yesAnnals of Movement Disorders, 2020
DRPLA (dentatorubral–pallidoluysian atrophy) is a neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) trinucleotide repeat expansion (>48) in ATN1 gene at 12p13.31 locus inherited in an autosomal-dominant manner.
Pooja Sharma   +10 more
doaj   +1 more source

Hyperglycemia Induced Hemichoreoathetosis, An Uncommon Presenting Symptom of Diabetes Mellitus [PDF]

open access: yesActa Medica Iranica, 2012
Chorea is brief, quasi-purposeful, irregular muscle contractions, not repetitive or rhythmic, but flows from one muscle to the next and athetosis is slow, writhing, continuous, worm-like movements of distal extremities (chiefly the fingers) which show ...
Sethu Prabhu Shankar   +3 more
doaj   +1 more source

Fahr’s syndrome with seizure presentation [PDF]

open access: yes, 2015
Fahr's disease (FD) or Fahr’s syndrome is characterized by basal ganglia calcification with clinical manifestations in the form of neuropsychiatric disorders, neurological symptoms, and cognitive symptoms.
Farshchian, N.   +4 more
core  

A Large Parallel Corpus of Full-Text Scientific Articles

open access: yes, 2019
The Scielo database is an important source of scientific information in Latin America, containing articles from several research domains. A striking characteristic of Scielo is that many of its full-text contents are presented in more than one language ...
Becker, Karin   +2 more
core   +2 more sources

Early Globus Pallidus Internus Stimulation in Pediatric Patients With Generalized Primary Dystonia: Long-Term Efficacy and Safety [PDF]

open access: yes, 2010
Primary generalized dystonia presents mainly at a young age and commonly is severely disabling. The authors report the long-term follow-up (mean, 73 months; range, 50-101 months) of 5 pediatric patients (mean age at surgery 13 years; range, 8-16 years ...
Berend Feddersen   +6 more
core   +1 more source

Choreoathetosis secondary to lead toxicity [PDF]

open access: yesArquivos de Neuro-Psiquiatria, 2008
Firearm projectiles have been described, albeit rarely, as a cause of lead toxicity. The usual route of lead exposure is oral ingestion, but toxicity secondary to retained bullet fragments has been well documented1. Switz et al. described the first case in 1976 – a bullet was lodged in a patient’s left ankle and gastrointestinal symptoms emerged forty ...
Mariana, Spitz   +3 more
openaire   +2 more sources

Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease [PDF]

open access: yesJournal of Movement Disorders, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene.
Dong-Seok Oh   +5 more
doaj   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

open access: yesEpileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor   +7 more
wiley   +1 more source

Drug reaction with eosinophilia and systemic symptoms after daclizumab therapy in MS [PDF]

open access: yes, 2018
Currently, 12 cases (including our patient) of autoimmune encephalitis/encephalopathy after daclizumab therapy in MS are known worldwide and led to voluntary withdrawal of marketing authorization for daclizumab by the manufacturer Biogen (press release ...
Harms, Lutz   +7 more
core   +1 more source

Update on Genetic Chorea

open access: yesEuropean Journal of Neurology, Volume 32, Issue 10, October 2025.
This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Jesús Pérez‐Pérez   +5 more
wiley   +1 more source

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