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Last update 08 May 2025

Jankovic Rivera Syndrome

Last update 08 May 2025

Basic Info

Synonyms

Hereditary myoclonus and progressive distal muscular atrophy, Hereditary myoclonus with progressive distal muscular atrophy, Hereditary myoclonus-progressive distal muscular atrophy syndrome

+ [13]

Introduction

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

Clinical Trials associated with Jankovic Rivera Syndrome

NCT06923241

/ RecruitingNot ApplicableIIT

Nutri-score Labelling in a UK Restaurant Setting: a Randomised Control Trial

An experiment exploring the perceived effectiveness of Nutri-score food labels with calorie labelling compared to calorie labelling only on food choice and consumption in a real-world setting

Start Date27 Mar 2025

Sponsor / Collaborator

The University of Liverpool

[+2]

NCT06593951

/ RecruitingNot ApplicableIIT

Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)

The Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1) is focused on gathering longitudinal clinical data as well as biological samples (blood and/or urine) from male and female patients, of all ages, who have a molecular diagnosis of EPM1or CSTB-null-related disease. Currently, there are no therapies that halt disease progression in any CSTB-related diseases, highlighting the urgency for translational research into this condition. The primary objective of the registry is to determine the natural history and genotype-phenotype correlations of disease-causing variants in EPM1 and CSTB-null-related disease.

Start Date10 Oct 2024

Sponsor / Collaborator

The Children's Hospital Corp.

[+1]

100 Clinical Results associated with Jankovic Rivera Syndrome

100 Translational Medicine associated with Jankovic Rivera Syndrome

0 Patents (Medical) associated with Jankovic Rivera Syndrome

Literatures (Medical) associated with Jankovic Rivera Syndrome

01 Apr 2025·Neurology Genetics

New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay

Article

Author: Grand, Katheryn ; Beghyn, Terence ; Allen-Sharpley, Michelle ; Cuinat, Silvestre ; de Lattre, Capucine ; Vanier, Marie T. ; Bézieau, Stéphane ; Sanchez-Lara, Pedro A. ; Mercier, Sandra ; Boespflug-Tanguy, Odile ; Moreau, Camille ; Rollier, Paul ; Paquot, Adrien ; de Masfrand, Servane ; Lion Francois, Laurence ; Levade, Thierry ; Chemaly, Nicole

Background and ObjectivesSpinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) due to acid ceramidase deficiency is a rare disorder, allelic with Farber disease, resulting from recessive ASAH1 variants. Patients present in early childhood with muscle weakness due to anterior horn degeneration and/or progressive drug-resistant myoclonic epilepsy. Death usually results from respiratory complications or status epilepticus during adolescence.MethodsWe identified 9 patients with SMA-PME from 5 different families followed in neurology, rehabilitation, and genetics departments of university hospitals in France and the United States. During disease progression, motor functional scores were assessed for seven of them and C26-ceramide quantification on dried blood spots (DBSs) was performed for 4 of them. An in cell assay, measuring the degradation rate of ceramides in living skin fibroblasts, was also performed in 2 patients. Finally, a literature review was conducted.ResultsTwelve years after the molecular characterization of SMA-PME, here we present the detailed history of 9 patients from 5 different families with 4 new ASAH1 variants. The prospective follow-up for 4 of them allows us to evaluate the relevance of functional scales and of C26-ceramide assay on DBS, as a biomarker. In addition, an in cell assay could provide a more reliable level of the residual ceramidase activity. Based on a comprehensive literature review, we provide a detailed description of the natural history of the 44 patients with SMA-PME diagnosed to date and show a genotype-phenotype correlation for the 2 main variants and the disease onset.DiscussionThis study presents the detailed natural history of SMA-PME. Given the rarity of this disease and the current lack of a reliable biomarker for patient follow-up, this work may serve as a retrospective control group for future therapeutic trials.

01 Jan 2025·Heliyon

Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants

Article

Author: Yin, Xiaojing ; Ma, Tingting ; Gao, Yuna ; Shi, Jinghe ; Wang, Li ; Guo, Jianmei ; Deng, Jie ; Mei, Daoqi

We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy. She carries an unreported compound heterozygous variant of the ASAH1 gene and is diagnosed with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a disorder in which ceramide accumulation in lysosomes due to a decrease in acid ceramidase activity. This case suggests attention to this rare class of deceases involving both the central and peripheral nervous systems.

31 Dec 2024·Journal of Obstetrics and Gynaecology

Mental health and quality of life in patients with premenstrual exacerbation: a cross-sectional study in Japan

Article

Author: Ogawa, Mariko ; Takamatsu, Kiyoshi ; Iioka, Yukiko

BACKGROUNDIn the classification of premenstrual disorders (PMDs), premenstrual exacerbation (PME) is listed as one of the variants of PMDs, along with core PMD. However, the incidence of PME and its impact on mental health and quality of life have not been investigated. Therefore, we investigated the proportion of PME among women seeking treatment for premenstrual symptoms in Japan and compared the levels of anxiety, depression and quality of life between women with PME and those with core PMD.METHODSWomen who presented to the Department of Obstetrics and Gynaecology of a single institute for treatment of premenstrual symptoms and were diagnosed with PMDs using patient diaries were included in the study. Based on the diagnosis, patients were divided into two groups (core PMD and PME) and their responses to a questionnaire on mental health and quality of life at the first visit were analysed.RESULTSA total of 32 women were diagnosed with PMDs (22 with core PMD and 10 with PME). All underlying medical conditions in women with PME were psychiatric disorders. There were no significant differences in various factors between the two groups. In terms of mental health, the PME group had higher levels of anxiety and depression than the core PMD group. Regarding quality of life, the PME group had lower scores than the core PMD group in all domains except physical and social functioning.CONCLUSIONSPatients seeking treatment for premenstrual symptoms included many PME. Women with PME were more anxious and depressed than those with core PMD, and their quality of life was low in both physical and psychological domains. Patients with PME should be diagnosed and treated more appropriately.

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Jankovic Rivera Syndrome

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