Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement.
Brain Dev
; 43(10): 1039-1043, 2021 Nov.
Article
en En
| MEDLINE
| ID: mdl-34147300
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_003900.5c.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.
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Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Tronco Encefálico
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Trastornos de la Motilidad Ocular
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Ataxia Cerebelosa
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Proteína Sequestosoma-1
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Mioclonía
Tipo de estudio:
Prognostic_studies
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Screening_studies
Idioma:
En
Revista:
Brain Dev
Año:
2021
Tipo del documento:
Article