Intergenerational instability and marked anticipation in SCA-17.

The authors describe an Italian family with autosomal dominant ataxia, dementia, psychiatric and extrapyramidal features, epilepsy, mild sensorimotor axonal neuropathy, and MRI findings of cerebral and cerebellar atrophy. A child had a distinctive presentation with onset at 3 years, growth retardation, fast progression, and early death. Molecular analysis demonstrated an expanded CAG/CAA repeat in the TBP gene (SCA-17). The repeat size was 66 triplets in the child and 53 in all the other patients.

Spatial cognition in children. I. Development of drawing-related (visuospatial and constructional) abilities in preschool and early school years.

The present study aimed to investigate the acquisition of visuospatial and graphomotor capacities during the pre-school and early schooling years in order to follow the normal development of drawing-related abilities and spatial cognition. Eighty children aged 3-5 years, divided in four subgroups each different for a 6-month period, and 80 children aged 8-9 years were administered a neuropsychological battery for visuospatial and visuoconstructional analysis. The battery explored five cognitive domains: visual scanning, visuospatial perceptual and representational abilities, visuomotor control and graphomotor skills. Results showed that the total scores significantly improved in each group of children with respect to the previous one, but the pattern of skill acquisition was not homogeneous. We observed a gradient from explorative and visuomotor to perceptive, representational and graphomotor abilities. Explorative and visuomotor abilities were almost mature at a time when visuoperceptual capacities began to develop. On the contrary, at that time we found very low performances at representational and constructional tasks. Our findings could suggest that constructional abilities need both perceptual and representational competences to develop properly.

Spatial cognition in children. II. Visuospatial and constructional skills in developmental reading disability.

Cognitive models for developmental dyslexia are nowadays centered on the hypothesis of a specific deficit within the phonologic module of the language system. To ascertain whether defects of spatial cognition are associated with developmental reading disability, we investigated a sample of 43 school children (aged 8-9 years) found to be reading impaired during a wide screening survey for developmental dyslexia in the province of Naples, Italy. After one year all children were tested again and only 9/43 still presented reading impairment, while the remaining had achieved a variable range of spontaneous recovery. A detailed analysis was performed on all children to characterize their cognitive performances using on one hand classical conventional tests for constructional praxis, visuospatial cognition, and visuospatial memory and on the other a specific neuropsychological battery for constructional disorders. The results of our study demonstrated that children with long-lasting reading impairment exhibited normal performances on spatial cognition tasks. Moreover, one single child was found with relevant visuospatial deficits pointing to the possible existence of a visuospatial subtype for developmental dyslexia.

Transient muteness followed by dysarthria in patients with pontomesencephalic stroke. Report of two cases.

Dysarthria is the principal motor abnormality following vascular damage to pontine paramedian structures, owing to the involvement of corticobulbar fibres. Here we describe 2 cases of adults affected by dysarthria following transient muteness as the result of a stroke in pontomesencephalic structures. Their clinical outcome was very similar to that of young patients who have undergone surgery of the 4th ventricle. Recently the importance of pons involvement has also been underlined in these cases. This case report suggests the existence of a functional network for speech, in which the pontomesencephalon is an important station for the triggering and the efficacy of verbal production.

The selective inability to draw horizontal lines: a peculiar constructional disorder.

A patient is described who was affected by degenerative dementia and who developed severe constructional apraxia. She showed a dissociation between the construction of horizontal lines (impaired) and oblique or vertical lines (spared) which has never been reported previously. A battery of tests disclosed that this phenomenon was consistent across a range of experimental conditions and that a similar dissociation was evident in perceptual and representational domains. This peculiar clinical finding suggests that mental representations of horizontal and vertical spatial relations in an egocentric coordinate system are functionally dissociated.

Effect of testing procedure on Corsi's block-tapping task in normal subjects and Alzheimer-type dementia.

Corsi's block-tapping task was given to 30 normal subjects and 38 Alzheimer-type demented patients following two different procedures. The first is the most widely standardized (scoring criterion: 3 correct reproductions out of 5 sequences), while the second is more lenient since it does not require subjects to replicate a certain performance three times. Demented patients' scores were lower than those of controls in both conditions, and scores on the two tasks were significantly correlated for patients and controls. However, the requirement of replicating the visuospatial memory performances was more detrimental for demented patients than for controls so the two procedures cannot be considered equivalent.

[Huntington chorea. Clinical correlations and preliminary neuropsychological data]. / Malattia di Huntington. Correlazioni cliniche e neuropsicologiche dati preliminari.

One of the cardinal features of Huntington's disease (HD) is the progressive cognitive deterioration. However, studies carried out on the neuropsychological profile in HD are discordant because there are differences in study designs, stage of disease and because of the coexistence of psychiatric disorders and cultural and educational background of subjects. Aim of this study is to relate the neuropsychological assessment with duration of illness and severity of motor impairment. Fourteen patients are given a neuropsychological battery, the results were statistically related to age and schooling. The data demonstrate very slow progression of cognitive deterioration without focal impairment of cognitive functions and without correlation with the severity of disease.

Visual associative agnosia and optic aphasia. A single case study and a review of the syndromes.

The case is presented of a patient who showed visual naming disturbances caused by a left occipital infarction. His performance on tests of visual naming, of recognition not requiring a verbal response, and of verbal-visual matching demonstrated a wide range of qualitatively different errors, including complete inability to recognize the object, access to partial semantic knowledge, and mere name finding difficulty. On the basis of the present case and of a review of the recent literature, the clinical distinction between visual associative agnosia and optic aphasia and the relation of these disorders with the anatomical site of lesion are discussed.

Archaic reflexes in normal elderly people.

The AA. have considered the incidence of some primitive reflexes in the "normal" old people. 120 subjects have been examined (60 M and 60 F) between the 70 to 90 age-group. The patients have been selected on the basis of the absence of neurologic disorders, psychiatric and systematic or dysmetabolic diseases. All the subjects undergo a standard neurologic examination. Results show that the examined reflexes can be present in normal old people. These signs seem to be related to the physiological ageing of the nervous system.

Kluver-Bucy syndrome. A case report.

We report a case of a 36-year-old right-handed woman, who, in the 40th week of her first pregnancy, presented light coma which lasted 6 days. When the patient came out of coma she presented very marked oral tendency and hypermetamorphosis resembling the Kluver-Bucy syndrome in man. As sustained in the literature, the lesion showed by CT scan was bilateral and involved mainly the limbic structures in baso-temporal sites. The patient is compared to other cases described in literature.

Mixed transcortical aphasia. On relative sparing of phonological short-term store in a case.

A case of Mixed Transcortical Aphasia is reported. The patient showed completely impaired verbal comprehension and speech production, with preservation of automatic speaking and singing; repetition was relatively spared. A detailed study of word and nonword repetition is reported, in order to demonstrate that the patient's residual repetition ability is based on relative sparing of short-term phonological store.

Verbal and spatial memory span in patients with extrapyramidal diseases.

Spatial span (Corsi's block-tapping test) and verbal span (Wechsler's Digits Forward test) were measured in 651 normal subjects and in three groups of extrapyramidal patients (Progressive supranuclear palsy, Parkinson, and Huntington's Chorea). Analysis showed Huntington's Chorea patients scored lower on both tests than did controls and other groups.

Residual reading capability in a patient with alexia without agraphia.

A case of pure alexia due to an ischemic lesion of the occipital temporal region is described. Written words could be matched but not read. Immediate memory span for graphemes was defective. The reading defect probably depends on the inability to modify the written word "globally"; the phonological process was intact, but the memory disturbance impeded reading. The dissociation is explained by the preservation of word forms, which are linked to the semantic stage. Non-written stimuli trigger a "meaning" which evokes the word form and so the written word is recognized even though it cannot be read.