Background: Homozygous sequestomosome-1 gene mutations have been recently linked to neurodegeneration with dystonia, ataxia and gaze palsy. Seven affected families were identified thus far.
Objective: To describe four new cases with additional phenotypical features.
Results: Four affected patients from two unrelated families were identified. Two compound heterozygous variants of the gene (c.257_259delins35 and c.301+1G > T) were found in one family (cases 1 and 2), and homozygous c.823_824delAG variant was identified in cases 3 and 4. In addition to the previously described syndrome characterized by cerebellar ataxia, dystonia, choreoathetosis, cognitive impairment and gaze palsy, two subjects presented with iridoplegia. Furthermore, we report dysautonomic features such as orthostatic hypotension and sudomotor dysfunction, along with other non-motor symptoms.
Conclusions: We expand the phenotype of dystonia caused by Sequestomosome-1 gene by identifying dysautonomic features along with other non-motor symptoms.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.parkreldis.2018.12.031 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Neurological and psychiatric characterization of rapid-onset dystonia-parkinsonism over time.
Parkinsonism Relat Disord
December 2024
Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA. Electronic address:
Introduction: The onset of symptoms in Rapid-onset dystonia-parkinsonism (RDP) is typically over days to weeks and is often triggered by stressors like fever or childbirth. Limited information is available on how the motor and nonmotor symptoms evolve over the course of the disease. Our longitudinal study analyzed data from a cohort of RDP patients, documenting their symptoms across multiple visits.
View Article and Find Full Text PDFTriplex H-DNA structure: the long and winding road from the discovery to its role in human disease.
NAR Mol Med
October 2024
Department of Biology, Tufts University, 200 Boston Ave., Medford, MA 02155, USA.
H-DNA is an intramolecular DNA triplex formed by homopurine/homopyrimidine mirror repeats. Since its discovery, the field has advanced from characterizing the structure to discovering its existence and role . H-DNA interacts with cellular machinery in unique ways, stalling DNA and RNA polymerases and causing genome instability.
View Article and Find Full Text PDF-Associated Paroxysmal Dystonia.
Tremor Other Hyperkinet Mov (N Y)
December 2024
Veracity Neuroscience LLC, Memphis, Tennessee, USA.
Background: mutations are associated with a diverse set of distinct neurological syndromes and intermediate phenotypes that may include extra-neural features. Overall, genotype-phenotype correlations are weak. There are no consensus treatments.
View Article and Find Full Text PDFSurface Electromyography for the Diagnosis of Tremor Syndrome: A Study of 97 Patients.
Ann Indian Acad Neurol
November 2024
Department of Neurology and Stroke Medicine, Amrita Hospital, Faridabad, Delhi National Capital Region, India.
Background And Objectives: Tremor is one of the most frequent movement disorders encountered in clinical practice with heterogeneous phenomenology and etiology. Surface electromyography (SEMG) is a noninvasive and reproducible test that can diagnose tremor syndromes.
Methods: In this retrospective study, the clinical and electrophysiologic records of 97 consecutive patients with tremor syndromes who visited our movement disorder clinic between January 2023 and March 2024 were examined.
Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.
Pediatr Int
December 2024
Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, Türkiye.
Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disease with visceral organ involvement and neurological and psychiatric symptoms. This study presents the clinical and laboratory findings of NPC cases involving three novel variants.
Methods: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!