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Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. We found that patients from a chromosome 16q24.3-linked HSP family are homozygous for a 9.5 kb deletion involving a gene encoding a novel protein, named Paraplegin. Two additional Paraplegin mutations,(More)
BACKGROUND AND PURPOSE Neuropathological examination in Friedreich ataxia (FRDA) reveals neuronal loss in the gray matter (GM) nuclei and degeneration of the white matter (WM) tracts in the spinal cord, brainstem and cerebellum, while the cerebral hemispheres are substantially spared. Tract-based spatial statistics (TBSS) enables an unbiased whole-brain(More)
BACKGROUND AND PURPOSE Neurodegeneration in spinocerebellar ataxia type 1(SCA1) and 2(SCA2) is associated with white matter(WM) damage. Voxel-Based Morphometry(VBM), histogram analysis of mean diffusivity(MD) and Tract-Based Spatial Statistics(TBSS) enable an in vivo quantitative analysis of WM volume and structure. We assessed with these 3 techniques the(More)
SYNJ1 has been recently identified by two independent groups as the gene defective in a novel form of autosomal recessive, early-onset atypical parkinsonism (PARK20). Two consanguineous families were initially reported (one of Sicilian and one of Iranian origins), with the same SYNJ1 homozygous mutation (c.773G > A, p.Arg258Gln) segregating with a similar(More)
Processing of time in the millisecond range seems to depend on cerebellar function and it can be assessed by using the somatosensory temporal discrimination threshold testing. No studies have yet investigated this temporal discrimination task in patients with cerebellar atrophy. Eleven patients with degenerative cerebellar ataxia and 11 controls underwent(More)
Introduction In visuo-constructional copying tasks demented patients may perform poorly on drawing, producing simplified figures, alterations in spatial relationships among the parts, lack of perspective, or failure in correctly integrating single elements in a coherent whole. Such behaviours can all be described with the term of " Constructional apraxia "(More)
The performance of the Compact Linear Collider (CLIC) damping rings (DR) is likely to be limited by collective effects due to the unprecedented brilliance of the beams. Coating will be used in both electron (EDR) and positron damping rings (PDR) to suppress effects like electron cloud formation or ion instabilities. The impedance modeling of the chambers,(More)
Objectives—To determine the occurrence of celiac disease in a population of ataxic patients without definite diagnosis and to characterise distinctive features which may help to diVerentiate cerebellar ataxia with and without celiac disease. Methods—Twenty four ataxic patients without definite diagnosis (group A) and 23 ataxic patients with definite(More)
Psychogenic nonepileptic seizures are predominantly seen in women: potential neurobiological reasons Ali A. Asadi-Pooya (USA) DOI 10.1007/s10072-016-2481-5 There is a predominance of female gender among patients with psychogenic non epileptic seizures (PNES). Reasons for this preponderance are not entirely explained in the literature yet. The evidence shows(More)