BACKGROUND Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the most common single-gene disorder known to be associated with autism. Despite recent advances in functional neuroimaging and our understanding of the molecular pathogenesis, only limited neuropathologic information on FXS is available. METHODS Neuropathologic examinations were performed...

Sir, Opsoclonus-myoclonus syndrome (OMS) is a rare but distinctive disorder, characterized by irregular, continual, and conjugated chaotic saccades of the eyes accompanied by appendicular myoclonus and truncal ataxia. No etiological factor can be found in 50% of adult cases. In 20% of cases it may be paraneoplastic and may also be a manifestation of brainstem stroke or infection. The most commo...

Intracranial epidermoid cysts are usually located in the paramedian regions with characteristic imaging features. Intracystic hemorrhage is rarely reported with most in the cerebellopontine angle area. We described a case of hemorrhagic epidermoid cyst in cerebellar vermis. The patient was a 21-year-old male presenting with a first episode of convulsive seizure attack as the initial and sole sy...

Dandy-Walker malformation is a rare congenital malformation, characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation 4th ventricle and enlargement posterior fossa. Postnatal hydrocephalus develops in approximately 70-90% patients. The relationship with postaxial polydactyl has been defined as possible autosomal recessive syndrome (OMIM 220220). Here, we present an in...

The biogenic amine histamine is an important neurotransmitter in the central nervous system that has been implicated in learning and memory processes. Experimental evidence indicates that the role of the cerebellum may be more complex than the simple regulation of motor responses, and recent studies have demonstrated significant involvement of the cerebellum in emotional memory consolidation. T...

BACKGROUND AND PURPOSE Injury of the cerebellar vermis may occur in children with brain malignancies. Because the vermis is involved in motor and cognitive functioning, the goal of this prospective longitudinal study was to evaluate treatment-related changes in vermal volumes and neuropsychologic performance in children receiving brain radiation of the cerebellum. MATERIALS AND METHODS Ten pa...

Ataxia-telangiectasia is a recessive genetic disorder (ATM is the mutated gene) of childhood with severe motor impairments and whereas homozygotes manifest the disorder, heterozygotes are asymptomatic. Structural brain imaging and post-mortem studies in individuals with ataxia-telangiectasia have reported cerebellar atrophy; but abnormalities of motor control characteristic of extrapyramidal dy...

OBJECTIVE Investigating neuroanatomic differences in monozygotic twins who are discordant for autism can help unravel the relative contributions of genetics and environment to this pervasive developmental disorder. The authors used magnetic resonance imaging (MRI) to investigate several brain regions of interest in monozygotic twins who varied in degree of phenotypic discordance for narrowly de...