l -Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report

Shiohama, Tadashi; Ohashi, Hirofumi; Shimizu, Kenji; Fujii, Kiyotaka; Oba, Daiju; Takatani, Tomozumi; Kato, Mitsuhiro; Shimojo, Naoki

doi:10.1016/j.braindev.2017.12.008

Cited by 8 publications

(16 citation statements)

References 13 publications

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“…General principles for D2 receptor-blocking agents can be summarized as follows: 80 More potent D2 receptor-blocking action is associated with greater antichoreic efficacy More potent D2 receptor-blocking action is associated with a higher risk of developing TD.…”

Section: Dopamine D2 Receptor-blocking Agentsmentioning

confidence: 99%

Treatment of Chorea in Childhood

Yılmaz

Mink

2020

Pediatric Neurology

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Section: Dopamine D2 Receptor-blocking Agentsmentioning

confidence: 99%

Treatment of Chorea in Childhood

Yılmaz

Mink

2020

Pediatric Neurology

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“… 74 Treatment of hypothyroidism can improve neurological symptoms as demonstrated in a case with L‐thyroxine responsive drop attacks. 75 …”

Section: Resultsmentioning

confidence: 99%

“…Movement disorder symptoms improve with normalization of thyroid hormone levels in both idiopathic and genetic forms thyroid function. 75 , 83 As a general rule, in patients presenting with a new movement disorder or an unexpected lack of or unexpected response to the standard drug regime (eg, levodopa‐resistant PD secondary to hypothyroidism 38 ) or unexpected worsening of a pre‐diagnosed movement disorder, thyroid function should be checked and corrected. Similar conclusions were drawn by Ercoli et al 1 for ataxia in the context of thyroid dysfunction.…”

Section: Resultsmentioning

confidence: 99%

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Thyroid Disorders and Movement Disorders—A Systematic Review

Schneider

Tschaidse

Reisch

2023

Movement Disord Clin Pract

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Background There is overlap between movement disorders and neuroendocrine abnormalities. Objectives and methods To provide a systematic review on the association of thyroid dysfunction and movement disorders. Thyroid physiological function and classical thyroid disorders highlighting typical and atypical manifestations including movement disorders, as well as diagnostic procedures, and treatments are discussed. Results Hypothyroidism may be associated with hypokinetic and hyperkinetic disorders. There is debate whether their concomitance reflects a causal link, is coincidence, or the result of one unmasking the other. Hypothyroidism‐associated parkinsonism may resemble idiopathic Parkinson's disease. Hypothyroidism‐associated hyperkinetic disorders mainly occur in the context of steroid‐responsive encephalopathy with autoimmune thyroiditis, that is, Hashimoto disease, mostly manifesting with tremor, myoclonus, and ataxia present in 28–80%, 42–65% and 33–65% in larger series. Congenital hypothyroidism manifesting with movement disorders, mostly chorea and dystonia, due to Mendelian genetic disease are rare. Hyperthyroidism on the other hand mostly manifests with hyperkinetic movement disorders, typically tremor (present in three quarters of patients). Chorea (present in about 2% of hyperthyroid patients), dystonia, myoclonus, ataxia and paroxysmal movement disorders, as well as parkinsonism have also been reported, with correlation between movement intensity and thyroid hormone levels. On a group level, studies on the role of thyroid dysfunction as a risk factor for the development of PD remain non‐conclusive. Conclusions In view of the treatability of movement disorders associated with thyroid disease, accurate diagnosis is important. The pathophysiology remains poorly understood. More detailed case documentation and systematic studies, along with experimental studies are needed.

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“…One is described as presenting ataxia, 16 whereas another is noted to have limb dystonia in the ClinVar database. The mean deletion size reported in the 28 individuals with NKX2‐1 deletion was approximately 4.65 ± 1.28 Mb (mean ± SD), whereas three patients were characterized as having deletions that do not directly involve the NKX2‐1 gene 17,18 . In 14 of these patients, age is reported, with a mean age of 9.35 ± 5.1 years (mean ± SD).…”

Section: Resultsmentioning

confidence: 99%

Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature

Soliani

Martín

Balsells³

et al. 2023

Movement Disord Clin Pract

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BackgroundBackground: Chromosome microarray analysis (CMA) can detect copy number variants (CNV) beyond the resolution of standard G-banded karyotyping. De novo or inherited microdeletions may cause autosomal dominant movement disorders. Objectives Objectives: The purpose of this study was to analyze the clinical characteristics, associated features, and genetic information of children with deletions in known genes that cause movement disorders and to make recommendations regarding the diagnostic application of CMA. Methods Methods: Clinical cases published in English were identified in scientific databases (PubMed, ClinVar, and DECIPHER) from January 1998 to July 2019 following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Cases with deletions or microdeletions greater than 300 kb were selected. Information collected included age, sex, movement disorders, associated features, and the size and location of the deletion. Duplications or microduplications were not included. ResultsResults: A total of 18.097 records were reviewed, and 171 individuals were identified. Ataxia (30.4%), stereotypies (23.9%), and dystonia (21%) were the most common movement disorders. A total of 16% of the patients demonstrated more than one movement disorder. The most common associated features were intellectual disability or developmental delay (78.9%) and facial dysmorphism (57.8%). The majority (77.7%) of microdeletions were smaller than 5 Mb. We find no correlation between movement disorders, their associated features, and the size of microdeletions. Conclusions Conclusions: Our results support the use of CMA as an investigational test in children with movement disorders. As the majority of identified articles were case reports and small case series (low quality), future efforts should focus on larger prospective studies to examine the causation of microdeletions in pediatric movement disorders.Movement disorders in children are divided into two categories: hyperkinetic and hypokinetic movements. Pediatric hyperkinetic movements (PMD) are defined and classified by the Taskforce on Childhood Movement Disorders as dystonia, chorea, athetosis, myoclonus, tremor, tics, and stereotypies. 1,2 Pediatric hypokinetic movements are characterized by a decrease in the number of movements and are also referred to as hypokineticrigid syndrome or parkinsonism. 3 In 2016, a new nomenclature

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l -Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report

Cited by 8 publications

References 13 publications

Treatment of Chorea in Childhood

Treatment of Chorea in Childhood

Thyroid Disorders and Movement Disorders—A Systematic Review

Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature

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