Classification of dopa-responsive dystonia — a patient's perspective

Mottet, Lucy

doi:10.1038/nrneurol.2016.85

Cited by 4 publications

(1 citation statement)

References 9 publications

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“…Die Dopa-responsive Dystonie (DRD, Segawa-Syndrom) von der es autosomaldominante und rezessiven Formen gibt, wird in drei klinische Störungsbilder eingeteilt: klassische DRD, DRD mit Parkinson-Syndrom und früh beginnende atypische DRD. Gerade bei Erwachsensen kann meist ein PS im Vordergrund stehen, das wie ein IPS mit frühem Beginn imponiert (15,16).…”

Section: Monogenetische Ursachen Für Parkinson-syndromeunclassified

Seltene Parkinson-Syndrome

Ceballos-Baumann¹

2018

Nervenheilkunde

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ZusammenfassungDie verschiedenen Parkinson-Syndrome (PS) klinisch einzelnen Krankheitsentitäten zuzuordnen, gilt als schwierig. Es sind viele seltene Parkinson-Syndrome von dem häufigen sporadischen idiopathischen Parkinson-Syndrom (IPS) zu differenzieren. Zum Teil neu aufgelegte Kriterien für das IPS und die atypischen Parkinson-Syndrome wie Demenz vom Lewy-Body-Typ (DLB), Multisystematrophie (MSA), progressiver supranukleärer Blickparese (PSP) und kortikobasales Syndrom (CBS) sollten die diagnostische Einordnung verbessern. Patienten mit vom sporadischen IPS kaum unterscheidbaren monogenetischem PS, z. B. mit LRRK2-Mutationen oder mit einem Risikogen, z. B. Mutationen im GBAGen, können relativ einfach genetisch diagnostiziert werden. Bei jungen PS-Patienten müssen komplexe Krankheiten wie z. B. das häufige Mikrodeletionssyndrom 22q11.2 (Di-George-Syndrom), Morbus Wilson und “Morbus Fahr” sowie die Gruppe der Neurodegenerationen mit Eisenablagerung im Gehirn (NBIAs) berücksichtigt werden.

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Section: Monogenetische Ursachen Für Parkinson-syndromeunclassified

Seltene Parkinson-Syndrome

Ceballos-Baumann¹

2018

Nervenheilkunde

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GCH1 mutations in dopa-responsive dystonia and Parkinson’s disease

Yoshino

Nishioka

et al. 2018

J Neurol

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Guanosine triphosphate cyclohydrolase I (GCH1) mutations are associated with increased risk for dopa-responsive dystonia (DRD) and Parkinson's disease (PD). Herein, we investigated the frequency of GCH1 mutations and clinical symptoms in patients with clinically diagnosed PD and DRD. We used the Sanger method to screen entire exons in 268 patients with PD and 26 patients with DRD, with the examinations of brain magnetic resonance imaging scans, striatal dopamine transporter scans, and [I] metaiodobenzylguanidine (MIBG) myocardiac scintigraphy scans. We identified 15 patients with heterozygous GCH1 mutations from seven probands and five sporadic cases. The prevalence of GCH1 mutations in probands was different between PD [1.9% (5/268)] and DRD [26.9% (7/26)] (p value < 0.0001). The onset age tends to be different between PD and DRD patients: 35.4 ± 25.3 and 16.5 ± 13.6, respectively (average ± SD; p = 0.08). Most of the patients were women (14/15). Dystonia was common symptom, and dysautonomia and cognitive decline were uncommon in our PD and DRD. All patients presented mild parkinsonism or dystonia with excellent response to levodopa. Seven of seven DRD and three of five PD presented normal heart-to-mediastinum ratio on MIBG myocardial scintigraphy. Five of six DRD and three of four PD demonstrated normal densities of dopamine transporter. Our findings elucidated the clinical characteristics of PD and DRD patients due to GCH1 mutations. PD patients with GCH1 mutations also had different symptoms from those seen in typical PD. The patients with GCH1 mutations had heterogeneous clinical symptoms.

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Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases

Thompson

Anastasiadis

Druyeh

et al. 2020

Preprint

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Prion diseases are fatal neurodegenerative conditions with highly accurate CSF and imaging diagnostic markers, but major unmet needs for blood biomarkers. Using ultrasensitive immuno-assays, we measured tau and neurofilament light chain (NfL) protein concentrations in 709 plasma samples taken from 377 individuals with prion disease during a 12-year prospective clinical study, alongside healthy and neurological control groups. This provides an unprecedented opportunity to evaluate their potential as biomarkers. Plasma tau and NfL were increased across all prion disease types. For distinguishing sCJD from control groups including clinically-relevant *CJD mimics*, both show considerable diagnostic value. In sCJD, NfL was substantially elevated in every sample tested, including during early disease with minimal functional impairment and in all follow-up samples. Plasma tau was independently associated with rate of clinical progression in sCJD, while plasma NfL showed independent association with severity of functional impairment. In asymptomatic PRNP mutation carriers, plasma NfL was higher within 2 years of symptom onset than in samples taken earlier. We present biomarker trajectories for 9 individuals healthy at enrolment who developed symptoms during follow-up, showing potential for plasma NfL as a *proximity marker*. We conclude that plasma tau and NfL have potential to fill key unmet needs for biomarkers in prion disease: as an outcome for clinical trials (NfL and tau); for predicting onset in at-risk individuals (NfL); and as an accessible test for earlier identification of patients that may have CJD and require more definitive tests (NfL). Further studies should evaluate their performance directly in these specific roles.

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Classification of dopa-responsive dystonia — a patient's perspective

Cited by 4 publications

References 9 publications

Seltene Parkinson-Syndrome

Seltene Parkinson-Syndrome

GCH1 mutations in dopa-responsive dystonia and Parkinson’s disease

Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases

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