Early categorization of social affordances during the visual encoding of bodily stimuli.

Interpersonal interactions rely on various communication channels, both verbal and non-verbal, through which information regarding one's intentions and emotions are perceived. Here, we investigated the neural correlates underlying the visual processing of hand postures conveying social affordances (i.e., hand-shaking), compared to control stimuli such as hands performing non-social actions (i.e., grasping) or showing no movement at all. Combining univariate and multivariate analysis on electroencephalography (EEG) data, our results indicate that occipito-temporal electrodes show early differential processing of stimuli conveying social information compared to non-social ones. First, the amplitude of the Early Posterior Negativity (EPN, an Event-Related Potential related to the perception of body parts) is modulated differently during the perception of social and non-social content carried by hands. Moreover, our multivariate classification analysis (MultiVariate Pattern Analysis - MVPA) expanded the univariate results by revealing early (<200 ms) categorization of social affordances over occipito-parietal sites. In conclusion, we provide new evidence suggesting that the encoding of socially relevant hand gestures is categorized in the early stages of visual processing.

Neuronal intranuclear inclusion disease: neuropathologic study of a case.

We report neuropathological findings in a 22-year-old man affected with neuronal intranuclear inclusion disease. The inclusions affected to different extents the various structures of the central nervous system, being more numerous in cerebral cortex, inferior olives, hypoglossal and oculomotor nuclei. They ultrastructurally differed from Marinesco bodies. In the neurons of the substantia nigra, we occasionally observed intranuclear inclusions resembling the so-called rodlets of Roncoroni. We did not observe inclusions in the extraneuronal tissues. There was no apparent correlation between frequency of the inclusions and neuronal loss. Intranuclear inclusions were found in many morphologically normal neurons. We suggest that the intranuclear inclusions are the marker of a distinctive disorder, even though their role in neuronal degeneration remains to be clarified.

CAG repeat expansion in an italian family with spinocerebellar ataxia type 2 (SCA2): a clinical and genetic study.

We report an Italian family in which molecular genetic analysis showed expansion of CAG repeats indicative of the SCA2 genotype. This family confirms that ataxia, ophthalmoparesis and sensory peripheral neuropathy are the salient features of the SCA2 phenotype. In the present cases, early onset and mental deterioration were important additional findings. Nerve biopsy findings were compatible with a chronic axonopathy. We found a direct correlation between length of triplet expansion and severity of the clinical symptoms. Of particular interest is the late-onset phenotypical expression in a patient with 34 repeats.

A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers.

We describe two brothers with an autosomal recessive syndrome characterized by neonatal onset, severe impairment of cognitive and motor functions, abnormal ocular movements and slight dystonic postures. Brain MR and CT scan showed a reduction in size of the cerebellum and to a lesser extent pons, accompanied by cerebral and cerebellar white matter abnormalities. These data suggest that they have a particular phenotype of pontocerebellar hypoplasia. Extensive laboratory investigation excluded known metabolic causes of pontocerebellar hypoplasia. We discuss the nosological status of pontocerebellar hypoplasia in relation to other early-onset pontocerebellar disorders.

Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities.

We describe two unrelated patients with Hallervorden-Spatz, disease characterized by prominent facio-bucco-lingual dyskinesia. Acanthocytosis and retinitis pigmentosa were additional findings. Brain MRI showed the typical 'tiger's eye' image of the globus pallidus. This phenotype closely resembled the so-called HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa and pallidal degeneration), but extensive serum lipid study failed to demonstrate any lipoprotein abnormality. Our results raise the question whether HARP syndrome is an autonomous entity or a particular phenotype of Hallervorden-Spatz disease.

Autosomal recessive paraparesis with amyotrophy of hands and feet and white matter lesions.

We report two siblings with a hitherto undescribed syndrome of autosomal recessive spastic paraparesis accompanied by amyotrophy of hands and feet, and mental deterioration. Laboratory tests showed signs of lower motoneuron involvement in the four limbs, more accentuated in the distal regions. Brain MR showed bilateral symmetrical white matter lesions. We discuss the nosological status of this syndrome in relation to other similar forms of "complicated" spastic paraparesis.

Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency.

We report on a male patient aged 38, affected by a syndrome whose characteristic features include onset in early childhood, slow progression, diffuse muscle weakness, mental retardation and cardiomyopathy. Muscle biopsy showed myopathic changes compatible with muscular dystrophy. However, immunostaining for dystrophin as well as 50 and 43 kDa dystrophin-associated glycoproteins (DAGs) was normal. Genetic analysis suggested that direct involvement of the dystrophin gene was highly unlikely. No other family members were affected. Although the clinical picture is reminiscent of Duchenne/Becker muscular dystrophy, the immunologically and genetically documented lack of dystrophin involvement suggests that this particular syndrome is as yet undescribed.

Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case.

We report the case of a boy with neuronal intranuclear inclusion disease in whom the diagnosis was made by examination of a rectal biopsy specimen. Intranuclear inclusions were observed in the Auerbach and Meissner plexuses. In an attempt to understand the physiopathology of this very rare disease, we performed polymerase chain reaction (PCR) and reverse transcriptase-PCR analysis for viral nucleic acids of human immunodeficiency virus type 1 (HIV-1), HIV-2, human cytomegalovirus and measles virus. No viral nucleic acids were detected in the biopsy specimen.

Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy.

We describe an Italian male patient, deceased at 29 years of age, affected with a syndrome characterized by childhood-onset seizures, mental disorders, motor dysfunction and bilateral palatal myoclonus. Skeletal X-ray examination showed diffuse osteopenia of the tubular bones, and cyst-like lesions in the carpal, metacarpal and tarsal bones bilaterally and in the proximal end of the right femur. Skin biopsy showed subcutaneous and adipose tissue containing membranocystic structures. Cerebral MR and CT scans showed fronto-temporal atrophy, altered signal of the white matter and mineralization of the caudate and dentate nuclei. These findings strongly recall polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, but in the present case, bone alterations were not prominent; moreover, palatal myoclonus has never previously been described in this syndrome.

Early-onset benign limb-girdle myopathy with contractures and facial involvement affecting a father and daughter.

We describe a father and daughter with early-onset benign limb-girdle myopathy and contractures of elbows and hands, resembling Bethlem disease. Muscle biopsy showed a pattern of dystrophy with non specific mitochondrial changes. In both patients there was unusual facial muscle weakness. We discuss the nosologic position of Bethlem myopathy and suggest that facial involvement may be an additional feature of this disease.

Myopathic involvement in two cases of Hallervorden-Spatz disease.

Muscle biopsy was performed in two patients with Hallervorden-Spatz disease and increased serum creatine kinase levels. Morphological analysis showed myopathic signs such as subsarcolemmal accumulation of myeloid structures, dense bodies and debris, endomysial macrophage activation, focal necrosis and fiber splitting. We emphasize the finding of muscle involvement in Hallervorden-Spatz disease, like in other forms of neuroacanthocytosis.