Cerebellar hypoplasia (CH) refers to a cerebellum of reduced volume with preserved shape.
CH is associated with a broad heterogeneity in neuroradiologic features, etiologies, clinical …

In fetal alcohol spectrum disorders (FASD), brain growth deficiency is a hallmark of subjects
both with fetal alcohol syndrome (FAS) and with non‐syndromic FASD (NS‐FASD, ie, those …

BACKGROUND AND PURPOSE: The traditionally described Dandy-Walker malformation
comprises a range of cerebellar and posterior fossa abnormalities with variable clinical …

Purpose The clinical variability of Blakeʼs pouch cysts (BPC) may range from asymptomatic
via ataxia to sequelae of decompensated hydrocephalus. On the other hand, Dandy-Walker …

Aim To identify easily accessible neuroanatomical abnormalities useful for diagnosing fetal
alcohol spectrum disorders (FASD) in fetal alcohol syndrome (FAS) but more importantly for …

Background and Objectives AP-4-associated hereditary spastic paraplegia (AP-4-HSP:
SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary …

SUPV3L1 encodes a helicase that is mainly localized in the mitochondria. It has been
shown in vitro to possess both double‐stranded RNA and DNA unwinding activity that is …

Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive
disorder of γ-aminobutyric acid (GABA) degradation, resulting in elevations of brain GABA …

Objectives: To set age-specific normal reference values for brainstem, cerebellar vermis,
and peduncles measurements and characterize values' variations according to gender, age …

Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare
multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol …