Journal of neurology, neurosurgery, and psychiatry · 2009
Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Scuderi C, Fichera M, Calabrese G, Elia M, Amato C, Savio M, Borgione E, Vitello G A, Musumeci S A
Аннотация
BACKGROUND: Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4) is considered to be a pure form of spastic hereditary paraparesis. However, in this disease also other signs of central nervous system involvement are frequently found.
METHODS: Clinical, genetical and neuroradiological investigations were carried out in a large family with autosomal dominant spastic paraparesis and in a sporadic case with spastic paraparesis.
RESULTS: Additional clinical and molecular data are provided, studying other members of the same pedigree, as already described, with a five-base deletion in exon 9 of the SPG4 gene (1215-1219delTATAA) whose members show MRI anomalies that fall within the Dandy-Walker continuum. Furthermore, an unrelated female patient with hypoplasia of the cerebellar vermis is indicated, carrying a de novo previously reported mutation of the SPG4 gene (c.1741C>T p.R581X).
CONCLUSIONS: Spastin may play an important role in the development of the central nervous system and in particular in the development of the structures of posterior fossa.
METHODS: Clinical, genetical and neuroradiological investigations were carried out in a large family with autosomal dominant spastic paraparesis and in a sporadic case with spastic paraparesis.
RESULTS: Additional clinical and molecular data are provided, studying other members of the same pedigree, as already described, with a five-base deletion in exon 9 of the SPG4 gene (1215-1219delTATAA) whose members show MRI anomalies that fall within the Dandy-Walker continuum. Furthermore, an unrelated female patient with hypoplasia of the cerebellar vermis is indicated, carrying a de novo previously reported mutation of the SPG4 gene (c.1741C>T p.R581X).
CONCLUSIONS: Spastin may play an important role in the development of the central nervous system and in particular in the development of the structures of posterior fossa.
Предметные рубрики MeSH
Adenosine TriphosphatasesAdolescentAdultAgedChildChild, PreschoolCodonCognitionCranial Fossa, PosteriorDandy-Walker SyndromeElectroencephalographyElectromyographyExonsFemaleHumansInfantIntellectual DisabilityMagnetic Resonance ImagingMaleMiddle AgedMutationNeuropsychological TestsPedigreeSpastic Paraplegia, HereditarySpastinYoung Adult