Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10

Pontocerebellar hypoplasia type 10 (PCH10) due to CLP1 gene mutations is characterized by structural brain anomalies, progressive microcephaly, severe intellectual and physical disabilities, and spasticity. In this follow-up study, evolution of phenotypic and neurological characteristics of patients...

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Veröffentlicht in:	Pediatric neurology 2024-09, Vol.158, p.1-10
Hauptverfasser:	Guler, Serhat, Aslanger, Ayca Dilruba, Uygur Sahin, Turkan, Alkan, Alpay, Yalcinkaya, Cengiz, Saltik, Sema, Yesil, Gözde
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Brain - diagnostic imaging Brain - pathology Cerebellar Diseases Child Child, Preschool CLP1 Disease Progression Electroencephalography Female Follow-Up Studies Humans Infant Magnetic Resonance Imaging Male Muscle Spasticity - diagnostic imaging Muscle Spasticity - physiopathology Olivopontocerebellar Atrophies - diagnostic imaging Olivopontocerebellar Atrophies - pathology Olivopontocerebellar Atrophies - physiopathology PCH10 Phenotype Pontocerebellar hypoplasia Progressive microcephaly Structural brain anomalies
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