TSEN54 mutations cause pontocerebellar hypoplasia type 5
نویسندگان
چکیده
منابع مشابه
TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation
Pontocerebellar hypoplasia (PCH) type 2 is a very rare autosomal recessive neurodegenerative disorder with prenatal onset that disrupts brain development. We present three patients (two siblings and one unrelated child) with PCH 2 linked to the most common mutation c.919G > T (p.Ala307Ser) in TSEN54 gene. The disease started soon after birth with feeding difficulties, extrapyramidal symptoms, p...
متن کاملA familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation.
Pontocerebellar hypoplasia (PCH) comprises a rare group of neurodegenerative disorders with variable symptoms of cerebellar ataxia. Several gene mutations have been reported to be associated with different presentations of PCH. In the present study, an extended familial case of late‑onset hereditary ataxia mimicking PCH in respect of clinical manifestation, neuroradiological findings and geneti...
متن کاملBrain morphometry in Pontocerebellar Hypoplasia type 2
BACKGROUND Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to severe and early disruption of brain development, especially of cerebellum and pons. The aim of this work was to quantify the infra- and supratentorial brain growth during postnatal brain development in children with PCH2. METHODS MRI data of 24 children with PCH2 (age 0.02-17 years., 13 ...
متن کاملNatural course of pontocerebellar hypoplasia type 2A
INTRODUCTION Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyskinesia.Ninety percent carry a p.A307S mutation in the TSEN54-gene. Our aim was to describe the natural course including neurological and developmental features and other aspect...
متن کاملTSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.
The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of the ventral pons and cerebellum, with variable cerebral involvement and severe psychomotor retardation. Eight different subtypes (PCH1-8) have been reported up to now. PCH2 is the most common type, generally caused by homozygous mutations in the TSEN54 gene and charac...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2011
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2011.8