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.

Unawareness of dyskinesias in Parkinson's and Huntington's diseases.

We performed a clinical study to evaluate the unawareness of dyskinesias in patients affected by Parkinson's disease (PD) and Huntington's disease (HD). Thirteen PD patients with levodopa-induced dyskinesias and 9 HD patients were enrolled. Patients were asked to evaluate the presence of dyskinesias while performing specific motor tasks. The Abnormal Involuntary Movement Scale (AIMS) and Goetz dyskinesia rating scale were administered to determine the severity of dyskinesias. The Unified Parkinson's disease rating scale (UPDRS) and Unified Huntington's Disease Rating Scale (UHDRS) were used in PD and HD patients, respectively. In PD we found a significant negative relationship between unawareness score at standing and AIMS score and between unawareness score at hand pronation-supination and AIMS score for upper limbs. In HD we found a significant positive relationship between total unawareness score and UHDRS score and between total unawareness score and disease duration. In PD the unawareness seems to be inversely related with severity of dyskinesias, while in HD it is directly related to disease duration and severity.

The Apolipoprotein E genotype in patients affected by syndromes with focal cortical atrophy.

The role of the Apolipoprotein E (APOE) alleles in syndromes associated with focal cerebral atrophy (fronto-temporal dementia, primary progressive aphasia, corticobasal degeneration) is still controversial. We studied the APOE allele distribution in 39 patients with clinically diagnosed syndromes associated with focal cerebral atrophy (FCA), in 50 patients with early-onset probable Alzheimer's disease (EOAD), and in 60 patients with late-onset probable AD (LOAD). The APOE genotype was determined from a blood sample, using polymerase chain reaction and restriction enzyme digestion. The APOE epsilon4 allele frequency was significantly higher in the EOAD (21.0%) and LOAD (33.3%) groups, but not in the FCA group (5.1%), as compared with controls. In our population, the epsilon2 allele frequency was significantly higher in patients with FCA (12.8%) than in controls (4.8%). These results show that the APOE epsilon4 allele is not a risk factor for syndromes associated with FCA. The potential role of the epsilon2 allele in these syndromes needs further investigation.

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.

Evaluation of the motor cortex by magnetic stimulation in patients with Alzheimer disease.

Motor evoked potentials (MEPs) from abductor pollicis brevis (APB) and tibialis anterior (TA) muscles elicited by transcranial magnetic stimulation of the motor cortex were studied in 15 patients with Alzheimer disease (AD). An abnormally higher MEP threshold in APB, frequently associated with absence of the MEP in relaxed TA muscles, was found in 40% of patients, almost all of them in the more severe stage of the disease. The MEP amplitude and averaged MEP/MAP ratio were reduced respectively by 20% and 26% in the APB muscle, and by 46.7% and 53.3% in the TA muscle. The less frequent prolongation of the central conduction time (CCT) (20%) might reflect preservation of the impulse propagation along the surviving pyramidal fibers. In 63.6% of the patients the central silent period (cSP) duration in the APB muscle was shortened; the mean value was significantly different between patients and controls. The results of this study suggest that loss and/or dysfunction of motor cortex neurones, including pyramidal cells and inhibitory interneurones may occur in AD patients before clinical signs become apparent.

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.

Clinical evaluation of (-)eburnamonine in comparison with nicergoline in patients suffering from chronic brain ischemia.

The activity of (-)eburnamonine, a substance acting on the cerebral circulation and metabolism, was compared with that of nicergoline in a double-blind study carried out on a group of 28 patients (16 males and 12 females), suffering from established chronic brain ischemia. The treatment consisted of the administration for the first 5 days of 80 mg/day and for the following days of 60 mg/day of (-)eburnamonine, in 14 subjects. Nicergoline was administered to the other 14 subjects: 20 mg/day for the first 5 days and then 15 mg/day. The treatment was protracted for at least 20 days. (-)Eburnamonine appeared to influence some symptoms more rapidly and significantly than nicergoline. After 20 days of treatment the overall improvement obtained with (-)eburnamonine was 31 and 18% with nicergoline. No side effects or impairment of the biochemical tests appeared during either treatment.