on Multiple sclerosis (Houndmills, Basingstoke, England)
by Saccà F, Costabile T, Carotenuto A, Lanzillo R, Moccia M, Pane C, Russo CV, Barbarulo AM, Casertano S, Rossi F, Signoriello E, Lus G, Brescia Morra V
Despite cognitive tests have been validated in multiple sclerosis (MS), a neuropsychological evaluation is not implemented in the Expanded Disability Status Scale (EDSS) scoring.
on Journal of the neurological sciences
by Coppola C, Saracino D, Califano F, Barbarulo AM, Di Fede G, Piccoli E, Tagliavini F, Di Iorio G, Rossi G
on Orphanet journal of rare diseases
by Peluso I, Conte I, Testa F, Dharmalingam G, Pizzo M, Collin RW, Meola N, Barbato S, Mutarelli M, Ziviello C, Barbarulo AM, Nigro V, Melone MA, , Simonelli F, Banfi S
Inherited retinal dystrophies, including Retinitis Pigmentosa and Leber Congenital Amaurosis among others, are a group of genetically heterogeneous disorders that lead to variable degrees of visual deficits. They can be caused by mutations in over 100 genes and there is evidence for the presence of as yet unidentified genes in a significant proportion of patients. We aimed at identifying a novel gene for an autosomal recessive form of early onset severe retinal dystrophy in a patient carrying no previously described mutations in known genes.
on Behavioural neurology
by Grossi D, Santangelo G, Barbarulo AM, Vitale C, Castaldo G, Proto MG, Siano P, Barone P, Trojano L
Apathy is defined as a lack of motivation and has been reported to be common in Alzheimer's disease (AD) and Parkinson's disease (PD). To explore the neuropsychological correlates of apathy in patients with PD related dementia (PDD) and AD and to identify the specific cognitive profile of apathy in the two forms of neurodegenerative disease, 61 non-depressed patients (29 PDD and 32 AD) were selected. Out of these, 29 patients (47.5%) were detected as apathetic (14 PDD-A+ and 15 AD-A+), and 32 patients as non-apathetic (15 PDD-A- and 17 AD-A-). All patients underwent cognitive tasks tapping memory, visuospatial and executive functions, behavioral rating scales and Clinical Judgment for Apathy Syndrome (CJ-AS), an inventory developed to measure severity of apathy. The four subgroups differed significantly on memory and frontal tasks. The PDD-A+ performed significantly worse than PDD-A- on frontal tasks. The AD-A+ had poorer performance than AD-A- on frontal tasks. Last, PDD-A+ achieved significantly higher scores than AD-A+ on memory tasks. The four groups differed significantly on CJ-AS and behavioral rating scales.The results showed that apathetic patients with both forms of dementia showed a common neuropsychological and behavioral picture, characterized by defects on frontal tasks, thus strongly supporting the existence of an 'apathetic syndrome', characterized by specific cognitive and psychological symptoms.
on Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
by Coppola C, Rossi G, Barbarulo AM, Di Fede G, Foglia C, Piccoli E, Piscosquito G, Saracino D, Tagliavini F, Cotrufo R
Cortico-basal syndrome (CBS) is a rare neurodegenerative disease characterised by movement and cognitive disorders. It occurs along the spectrum of fronto-temporal lobar degeneration (FTLD), which also includes fronto-temporal dementia (FTD) and progressive supranuclear palsy (PSP). FTLD has recently been shown to be associated with mutations in GRN gene, coding for progranulin, a multifunctional secreted glycoprotein involved in cell cycle, inflammation and tissue repair. We describe the case of a 73-year-old man suffering from CBS with a family history of cognitive disorders belonging to the clinical spectrum of FTLD. Sequencing analysis of GRN in this patient revealed that the C157KfsX97 null mutation has been already described by Le Ber et al. in a French patient affected by an apparently sporadic form of FTD. This report confirms the variability of clinical phenotypes associated with the same mutation and emphasises the importance of genetic analysis in cases with a clear familiarity, as well as in apparently sporadic forms.
on Movement disorders : official journal of the Movement Disorder Society
by Santangelo G, Vitale C, Trojano L, Errico D, Amboni M, Barbarulo AM, Grossi D, Barone P
The theory of mind is the ability to attribute mental states to oneself and others and to understand that others have beliefs, desires and intentions different from one's own. The aim of the study was to explore the neuropsychological correlates of theory of mind in patients affected by early Parkinson's disease (PD). Thirty-three PD patients and 33 age-, sex-, and education-matched control subjects underwent the Frontal Assessment Battery, as well as tasks assessing "cognitive" and "affective" theory of mind, and memory abilities; questionnaires evaluating behavioral disorders and quality of life were also administrated. Although the 2 groups did not differ on neuropsychological tasks, PD patients' performance on tasks assessing cognitive and affective theory of mind was significantly worse than controls. Moreover, PD patients had more behavioral disorders and worse quality of life than controls. After covarying for behavioral and quality of life scores, the differences between patients and controls on theory of mind tasks remained significant. "Cognitive" theory of mind was associated with Frontal Assessment Battery score and 2 domains of quality of life scale, whereas "affective" theory of mind scores correlated only with behavioral scales such as the Frontal Behavioral Inventory and Apathy Evaluation Scale. The results demonstrate that both affective and cognitive aspects of theory of mind are simultaneously impaired in early PD and suggest that deficits in the 2 subcomponents of theory of mind may be linked to dysfunction of different frontosubcortical circuitries in early PD.
by Barbarulo AM, Pappatà S, Puoti G, Prinster A, Grossi D, Cotrufo R, Salvatore M, Trojano L
Acquired disorders of gesture imitation are amenable to treatment, but with poor generalisation toward gestures not included in the training program. We investigated the neural basis of this item-specific recovery in a patient with a slowly progressive posterior cortical atrophy, by means of an fMRI study comparing imitation of rehabilitated and not-rehabilitated gestures. Results suggested that in our patient gesture imitation recruited the mirror system and additional areas relevant to gesture analysis and preparation. Imitation of rehabilitated gestures activated the mirror neuron system, and also left dorsolateral prefrontal cortex and putamen, and the right anterior temporal cortex. This suggests that item-specific recovery was based on interaction of circuitry of imitation with neural systems involved in emotional and motivational processing.
by Barbarulo AM, Grossi D, Merola S, Conson M, Trojano L
We report a patient who, following a focal ischemic lesion of the left basal ganglia, developed right hand micrographia characterised by progressive reduction of letter size during writing (progressive micrographia). The patient did not show relevant cognitive impairments, but achieved pathological scores in tests for verbal fluency, and cognitive flexibility and monitoring. A systematic investigation of the writing performances demonstrated that micrographia showed a clear length effect in whatever writing style or task, while it was not observed in drawing, or in left hand writing to a comparable extent. Right hand progressive micrographia was not affected by a concurrent motor and cognitive load; instead, switching between two kinds of allographic responses and presenting one letter at a time in copying tasks reduced severity of micrographia significantly. These findings support the view that progressive micrographia in our patient could be ascribed to a defect in regulating the motor output on the basis of self-generated strategies. This conclusion would be consistent with neuroimaging evidence about the role of the basal ganglia in the control of motor sequencing, and could suggest that progressive micrographia might be associated with specific executive defects.
on Perceptual and motor skills
by Grossi D, Postiglione A, Schettini B, Trojano L, Barbarulo AM, Giugliano V, Ambron E, Aiello A
Subjective memory complaint is a self-reported memory impairment which affects elderly people. This problem does not interfere with daily living activities but could decrease quality of life. This study's purpose was to verify whether a specific, newly developed, autobiographical recall training could modify self-perception of memory of subjects with subjective memory complaint. Seven elderly subjects (4 women and 3 men; mean age 65.5 yr., SD=11) with such complaint, evidenced through a specific questionnaire, attended the training course and were prospectively assessed on standard neuropsychological tests, depressive symptomatology, and self-perception of memory. Self-perception of memory, as assessed by scores on a formalized questionnaire, improved significantly after the training, while depressive symptoms did not change. Neuropsychological performances were normal before and after the training, but a statistically significant improvement was observed only on the phonological fluency test. Thus the present pilot study suggested that the training may be effective in improving self-perception of memory and metamnestic capacity in elderly people with subjective memory complaints but not in changing subjects' depressive symptoms. This requires replication of this work with a much larger sample so statistical power is adequate.