Results 81 to 90 of about 6,098 (248)
Genetically confirmed first Indian dentatorubral–pallidoluysian atrophy kindred: A case report
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]
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]
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
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]
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]
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]
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
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]
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
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

