Status dystonicus associated with CLN8 disease

Yıldırım, Miraç; Köse, Engi̇n; Keçeli, Avni Merter; Balasar, Özgür; Şimşek, Nazmi

doi:10.1016/j.braindev.2020.12.005

Cited by 5 publications

(3 citation statements)

References 14 publications

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“…The neuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of genetically determined neurodegenerative conditions that are characterized by a progressive decline of cognitive and motor capacities, retinopathy evolving into blindness, variable cerebellar atrophy, and myoclonic epilepsy, leading to significantly decreased life expectancy [86]. Recently, a case of status dystonicus associated with CLN8 disease was described [87].…”

Section: Autosomal Recessivementioning

confidence: 99%

Classification of Dystonia

Biase

Santo

Caminiti

et al. 2022

Life

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Dystonia is a hyperkinetic movement disorder characterized by abnormal movement or posture caused by excessive muscle contraction. Because of its wide clinical spectrum, dystonia is often underdiagnosed or misdiagnosed. In clinical practice, dystonia could often present in association with other movement disorders. An accurate physical examination is essential to describe the correct phenomenology. To help clinicians reaching the proper diagnosis, several classifications of dystonia have been proposed. The current classification consists of axis I, clinical characteristics, and axis II, etiology. Through the application of this classification system, movement disorder specialists could attempt to correctly characterize dystonia and guide patients to the most effective treatment. The aim of this article is to describe the phenomenological spectrum of dystonia, the last approved dystonia classification, and new emerging knowledge.

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Section: Autosomal Recessivementioning

confidence: 99%

Classification of Dystonia

Biase

Santo

Caminiti

et al. 2022

Life

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“…33 Anecdotal evidence reported by Yildirim et al in 2020 describes a patient with CLN8 developing dystonia, responsive to medication, providing additional support for the presence of dystonia in CLN8 cases. 34 The study has certain limitations, primarily arising from the restricted information available in the medical records. This limitation hinders the precise definition of certain symptoms, often described in generic terms.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil

Santos,

de Souza,

Zeny

et al. 2024

Neuropediatrics

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Introduction Neuronal ceroid lipofuscinoses (CLNs) are a group of lysosomal storage disorders of genetic origin, characterized by progressive neurodegeneration and intracellular accumulation of autofluorescent lipopigment. Thirteen genes related to CLNs are currently described, showing genetic and allelic heterogeneity, most of them with an autosomal recessive pattern. Due to the few descriptions of cases related to CLNs in Brazil, it is necessary to describe the phenotypic and genotypic characteristics of these patients. This study aims to evaluate the genotypic profile and correlate it with the phenotypic characteristics of patients with CLN in a children's hospital. Methods This study was performed as a descriptive cross-sectional study with analysis of medical records, imaging, and laboratory tests of patients who had a confirmed molecular diagnosis of CLN. Results The sample consisted of 11 patients from nine families with different subtypes of CLNs (CLN2, 5, 6, 7, and 8), with CLN2 being the most prevalent in the study. A total of 16 mutation variants were identified in genes associated with the five CLNs described in this study, with typical and atypical clinical phenotypes depending on the subtype and its variants. Conclusion Novel mutations identified in the patients in this study showed phenotypes of rapid and severe progression in the CLN2 patient and similar characteristics in CLN6 and CLN7 patients, as previously described in the literature.

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“…[ 26 ] Yıldırım M et al . (2021)[ 27 ] reported a 5-year-old with NCL who presented with status dystonicus and responded to pharmacological intervention.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Movement Disorder Emergencies in a Tertiary Care Center in India

Yadav¹,

Bhoyar²,

Mahale³

et al. 2022

Annals of Indian Academy of Neurology

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Introduction: Movement disorders can present in emergency services in an acute severe form which can be life threatening if not recognized. The relative frequency and spectrum of movement disorder emergencies have not been studied extensively. We studied the frequency, spectrum, and outcome of patients presenting with movement disorders emergencies. Methods: This was a prospective, descriptive single center study. Patients presenting with acute movement disorders to the neurology emergency services of the institute during the study period from April 2019 to June 2021 were analyzed. Results: A total of 71 patients presented with acute movement disorders during the study period. Out of them, 65 patients had hyperkinetic and 6 patients had hypokinetic movement disorders emergencies. Fifteen patients were below the age of 18 years. Chorea (59.1%) was the most common movement disorder emergencies followed by dystonia and myoclonus in adults. Dystonia (33.3%) was the common movement disorder emergencies in children. Hyperglycemia followed by stroke was the most common etiology of acute movement disorders. Conclusion: This study brings out some novel findings on the movement disorders emergencies in Indian scenario. Chorea was the most common movement disorder emergencies presenting to the neurology emergency services. Early recognition and management of movement disorders emergencies help in reducing morbidity.

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Status dystonicus associated with CLN8 disease

Cited by 5 publications

References 14 publications

Classification of Dystonia

Classification of Dystonia

Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil

Spectrum of Movement Disorder Emergencies in a Tertiary Care Center in India

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