Hereditary progressive dystonia with marked diurnal fluctuation

Segawa, Masaya; Hosaka, Ai; Miyagawa, Fumio; Nomura, Yasuo; Imai, Hisamasa

doi:10.1007/978-3-7091-9146-0_17

Cited by 149 publications

(12 citation statements)

References 19 publications

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“…Heterozygous loss-of-function mutations in GCH1, a crucial enzyme for dopamine production in nigrostriatal neurons (Kaufman, 1959;Nagatsu et al, 1964), are the most common cause of DOPA-responsive dystonia (DRD) (Ichinose et al, 1994). DRD is a rare hereditary disease characterized by childhood-onset, generalized dystonia and a dramatic long-lasting response to levodopa (Segawa et al, 1976). The disease may also manifest in adulthood with parkinsonism as the sole or dominant clinical feature (Hjermind et al, 2006;Momma et al, 2009).…”

Section: Sirmentioning

confidence: 99%

Parkinsonism in GTP cyclohydrolase 1 mutation carriers

Guella

Sherman

Appel‐Cresswell

et al. 2014

Brain

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Section: Sirmentioning

confidence: 99%

Parkinsonism in GTP cyclohydrolase 1 mutation carriers

Guella

Sherman

Appel‐Cresswell

et al. 2014

Brain

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“…[51] Tremor is dopa-responsive and shows diurnal fluctuation. [50] AR inheritance has also been reported in DYT/PARK-GCH1. [52]…”

Section: Autosomal Dominant Primary Dystoniasmentioning

confidence: 87%

“…[49] DYT/PARK-GCH1 is a dopa-responsive dystonia caused by a heterozygous mutation in GCH1, which maps on chromosome 14q22.1-q22.2 and encodes the enzyme GTP cyclohydrolase 1. [50] Upper-limb postural tremor has been reported, either alone or with parkinsonism, in both childhood-and adult-onset cases. [50,51] Voice, head, chin and parkinsonian rest tremor are also described.…”

Section: Autosomal Dominant Primary Dystoniasmentioning

confidence: 99%

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Isolated and combined genetic tremor syndromes: a critical appraisal based on the 2018 MDS criteria

Magrinelli

Latorre

Balint

et al. 2020

Parkinsonism & Related Disorders

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The 2018 consensus statement on the classification of tremors proposes a two-axis categorization scheme based on clinical features and etiology. It also defines "isolated" and "combined" tremor syndromes depending on whether tremor is the sole clinical manifestation or is associated with other neurological or systemic signs. This syndromic approach provides a guide to investigate the underlying etiology of tremors, either genetic or acquired.Several genetic defects have been proven to cause tremor disorders, including autosomal dominant and recessive, X-linked, and mitochondrial diseases, as well as chromosomal abnormalities. Furthermore, some tremor syndromes are recognized in individuals with a positive family history, but their genetic confirmation is pending. Although most genetic tremor disorders show a combined clinical picture, there are some distinctive conditions in which tremor may precede the appearance of other neurological signs by years or remain the prominent manifestation throughout the disease course, previously leading to misdiagnosis as essential tremor (ET). Advances in the knowledge of genetically determined tremors may have been hampered by the inclusion of heterogeneous entities in previous studies on ET. The recent classification of tremors therefore aims to provide more consistent clinical data for deconstructing the genetic basis of tremor syndromes in the next-generation and long-read sequencing era. This review outlines the wide spectrum of tremor disorders with defined or presumed genetic etiology, both isolated and combined, unraveling diagnostic clues of these conditions and focusing mainly on ET-like phenotypes. Furthermore, we suggest a phenotype-to-genotype algorithm to support clinicians in identifying tremor syndromes and guiding genetic investigations.

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“…A hallmark of this condition is marked and sustained responses to low dose levodopa. This makes it an essential condition to recognize as symptoms are potentially treatable and treatment associated dyskinesias are uncommon [ 2 ]. We present a case of DRD with a pathogenic confirmed GCH-1 mutation who had no treatment response to low doses of levodopa but achieved complete symptoms control on a higher dose (900 mg/day).…”

Section: Introductionmentioning

confidence: 99%

A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment

Bradley

Lyons

Coleman

et al. 2021

Tremor and Other Hyperkinetic Movements

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Background: Mutations in the GCH-1 gene are associated with Autosomal Dominant Dopamine Responsive Dystonia (DYT 5). One of the hallmarks of this condition is dramatic and sustained response to low doses of levodopa. Case Report: We present the case of a 22 year old female patient with genetically confirmed GCH-1 Dopa-Responsive Dystonia who had no response to low dose Levodopa but who achieved symptom control on a total dose of 900 mg/day. Discussion: Autosomal Dominant Dopa-Responsive Dystonia is a phenotypical heterogenous condition that, in some cases, may require high doses of levodopa for treatment response. Highlights Mutations in the GCH-1 gene are associated with Autosomal Dominant Dopamine Responsive Dystonia which is typically defined by dramatic responses to low doses of levodopa. We report a patient with genetically confirmed Dopa-Responsive Dystonia who had no response to low dose Levodopa but who achieved symptom control with 900 mg/day.

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Hereditary progressive dystonia with marked diurnal fluctuation

Cited by 149 publications

References 19 publications

Parkinsonism in GTP cyclohydrolase 1 mutation carriers

Parkinsonism in GTP cyclohydrolase 1 mutation carriers

Isolated and combined genetic tremor syndromes: a critical appraisal based on the 2018 MDS criteria

A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment

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