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Congenital Ataxia (congenital + ataxia)

Distribution by Scientific Domains

Medical Sciences	100%

Selected Abstracts

Ataxia, autism, and the cerebellum: a clinical study of 32 individuals with congenital ataxia

DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 3 2005
Ingegerd Åhsgren MD
The suggested link between autism and cerebellar dysfunction formed the background for a Swedish clinical study in 2001. Thirty-two children (17 females, 15 males; mean age 12y, SD 3y 10mo; range 6 to 21y) with a clinical suspicion of non-progressive congenital ataxia were examined, and parents were interviewed about the presence of neuropsychiatric problems in the child. Twelve children had simple ataxia, eight had ataxic diplegia, and 12 had,borderline'ataxia. All but one of the 32 children had a mild to moderate gross motor disability according to Gross Motor Function Classification System (15 were categorized as level I,16 as level II, and one child as level IV). Neuroimaging and neuropsychological testing were achieved in most cases. There was a strong association between learning disability* and autism spectrum disorder (often combined with hyperactivity disorder) on the one hand, and both simple and borderline,ataxia'on the other, but a weaker link between ataxic diplegia and neuropsychiatric disorders. A correlation between cerebellar macropathology on neuroimaging and neuropsychiatric disorders was not supported. Congenital ataxia might not be a clear-cut syndrome of cerebellar disease, but one of many signs of prenatal events or syndromes, leading to a complex neurodevelopmental disorder including autism and learning disability. [source]

Non-progressive congenital ataxia with cerebellar hypoplasia in three families

ACTA PAEDIATRICA, Issue 2 2005
Z Yapici
Abstract Aim: Non-progressive ataxias with cerebellar hypoplasia are a rarely seen heterogeneous group of hereditary cerebellar ataxias. Method: Three sib pairs from three different families with this entity have been reviewed, and differential diagnosis has been discussed. Results: In two of the families, the parents were consanguineous. Walking was delayed in all the children. Truncal and extremity ataxia were then noticed. Ataxia was severe in one child, moderate in two children, and mild in the remaining three. Neurological examination revealed horizontal, horizonto-rotatory and/or vertical nystagmus, variable degrees of mental retardation, and pyramidal signs besides truncal and extremity ataxia. In all the cases, cerebellar hemisphere and vermis hypoplasia were detected in MRI. During the follow-up period, a gradual clinical improvement was achieved in all the children. Conclusion: Inheritance should be considered as autosomal recessive in some of the non-progressive ataxic syndromes. Congenital non-progressive ataxias are still being investigated due to the rarity of large pedigrees for genetic studies. If further information on the aetiopathogenesis and clinical progression of childhood ataxias associated with cerebellar hypoplasia is to be acquired, a combined evaluation of metabolic screening, long-term follow-up and radiological analyses is essential. [source]