BACKGROUND AND PURPOSE There is a scarcity of information on the effect of white matter degeneration in patients with spinocerebellar ataxia type 7. Therefore, we investigated the WM integrity in a large group of patients with spinocerebellar ataxia type 7 by using Tract-Based Spatial Statistics. MATERIALS AND METHODS Thirty-three patients with a molecular diagnosis of spinocerebellar ataxia ...

Among the newly discovered spinocerebellar cell groups, those at lumbar and more caudal levels of the cat's spinal cord were studied with regard to which of the two cerebellar peduncles, the restiform body or the superior cerebellar peduncle, is used by their axons. Bilateral injections with horseradish peroxidase were made into either of the anterior lobe or the posterior cerebellar terminatio...

The aim of this study was to identify spinal target cells of spinocerebellar neurons, in particular the ventral spinocerebellar tract (VSCT) neurons, giving off axon collaterals terminating within the lumbosacral enlargement. Axons of spinocerebellar neurons were stimulated within the cerebellum while searching for most direct synaptic actions on intracellularly recorded hindlimb motoneurons an...

BACKGROUND Differentiating movement disorders is critical for appropriate treatment, prognosis, and for clinical trials. In clinical trials this is especially important as effects can be diluted by inclusion of inappropriately diagnosed participants. In early disease duration phases, disorders often have overlapping clinical features, such as impairments in repetitive finger movement, making di...

Why are sensory signals and motor command signals combined in the neurons of origin of the spinocerebellar pathways and why are the granule cells that receive this input thresholded with respect to their spike output? In this paper, we synthesize a number of findings into a new hypothesis for how the spinocerebellar systems and the cerebellar cortex can interact to support coordination of our m...

In 13 cats and 5 dogs various parts of the frontal lobe were removed. As a result terminal degenerations in the rostral quarter of the insular claustrum were found by Nauta and Fink-Heimer II methods. In cats with motor cortex lesions, the degenerations were localized more dorsally than in cats with removals of the frontoorbital cortex, but there is a large overlap between degenerating areas of...

Recently, mutations in transmembrane protein 240 (TMEM240) were identified as the cause of spinocerebellar ataxia type 21 (SCA21) in several French families. Clinically, SCA21 is characterized as an early-onset, slowly progressive cerebellar syndrome typically associated with cognitive impairment. To date, molecular screening of SCA21 has not been reported among patients of other ethnic origins...

Intracellular aggregates commonly forming neuronal intranuclear inclusions are neuropathological hallmarks of spinocerebellar ataxia type 3 and of other disorders characterized by expanded polyglutamine-(poly-Q) tracts. To characterize cellular responses to these aggregates, we performed an immunohistochemical analysis of neuronal intranuclear inclusions in pontine neurons of patients affected ...

The spinocerebellar ataxias (SCA) are a group of autosomal dominantly inherited ataxias that are clinically characterised by progressive ataxia. Until now, 13 genetically distinct SCA subtypes have been identified. In 5 of these disorders (SCA1, SCA2, SCA3, SCA6, SCA7), the mutation is a translated, expanded CAG repeat. SCA8 is caused by a CTG expansion in the 3 untranslated region, SCA10 by an...