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Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement
- Source :
- Brain and Development. 43:1039-1043
- Publication Year :
- 2021
- Publisher :
- Elsevier BV, 2021.
-
Abstract
- In recent years, with advances in molecular genetics, many new mutations with various ataxic syndromes have been identified. Recently, homozygous sequestosome 1 (SQSTM1) gene variant with a progressive childhood-onset cerebellar ataxia, dystonia and gaze palsy was described. Here we describe a patient with progressive cerebellar ataxia and gaze palsy, as well as myoclonus, cognitive impairment and growth retardation with a homozygous SQSTM1 variant NM_003900.5:c.55G > T (p.Glu19*). Our case had brainstem lesions on brain magnetic resonance imaging that have not been previously reported. This novel finding expands the SQSTM1 gene-associated neuroradiologic spectrum. Homozygous SQSTM1 variant should be considered in the differential diagnosis in patients presenting with cerebellar findings, gaze palsy, and cognitive impairment to facilitate early diagnosis and genetic counseling.
- Subjects :
- Dystonia
education.field_of_study
Pathology
medicine.medical_specialty
Palsy
Ataxia
Cerebellar ataxia
business.industry
Genetic counseling
General Medicine
medicine.disease
03 medical and health sciences
0302 clinical medicine
Sequestosome 1
Developmental Neuroscience
Pediatrics, Perinatology and Child Health
medicine
Neurology (clinical)
medicine.symptom
Differential diagnosis
business
education
Myoclonus
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 03877604
- Volume :
- 43
- Database :
- OpenAIRE
- Journal :
- Brain and Development
- Accession number :
- edsair.doi...........ee7f82e2a39aea4040349ed537fc8ce0