Michelangelo Stanzani-Maserati

Biting Behavior, Aggression, and Seizures

Summary:  Purpose: To describe the semiologic features of aggressive behaviors observed in human epileptic seizures with particular reference to the act of biting a conspecific.

Cognitive and Sleep Features of Multiple System Atrophy: Review and Prospective Study

Background: The profile and degree of cognitive impairment in Multiple System Atrophy (MSA) and the impact of sleep disorders, REM sleep behavior disorder (RBD) in particular, in parkinsonism-related cognitive deficits are currently being debated. Summary: We reviewed the cognitive, affective and sleep findings in MSA and also carried out a longitudinal investigation of 10 MSA patients. At the first evaluation, 3 patients showed isolated cognitive deficits. After a mean of 16 months, these patients remained unchanged, while 1 patient worsened from a normal condition. No significant differences emerged when the cognitive, affective and video-polysomnographic findings of MSA-P and MSA-C were compared. Depression was present in half of the patients, although it did not influence their cognitive performance. Comparisons between the first and second evaluation data showed significant worsening in visual attention and in ADL/IADL and UMSARS. Key Messages: Isolated cognitive deficits are evidenced in a minority of MSA patients with the absence of a clear-cut diagnosis of dementia in the early stages of the disease. Attention and executive functions are often impaired. This study with a short follow-up period showed that RBD, although present in almost all patients affected by MSA, does not appear a clear early marker of cognitive impairment. Future longer-term studies with a larger patient sample are thus encouraged.

Early ictal speech and motor inhibition in fronto-mesial epileptic seizures: a polygraphic study in one patient

OBJECTIVE To investigate ictal motor inhibition occurring during seizures in a patient with a tumor located in the left fronto-mesial pre-central cortex. METHODS Awake and sleep video-polygraphic monitoring, recording scalp EEG and EMG activities from several cranial, trunk and limbs muscles, was performed in a patient with drug-resistant recurrent focal motor seizures before surgical treatment. Speech/motor tasks were repeatedly administered to the patient during the recording sessions in order to evaluate the occurrence of early ictal motor inhibition. RESULTS Thirty-four seizures were recorded during wakefulness showing a stereotyped pattern of inhibition of speech and voluntary movements followed by sequential activation of upper limb-trunk-lower limb muscles contralateral to the tumor. Polygraphic recordings showed that: (1) initial speech and motor arrest were associated with the EMG evidence of progressive muscle tone suppression in cranial and right distal upper limb muscles; (2) tonic contraction of right deltoid, biceps brachii, intercostalis and paraspinalis muscles appeared after motor inhibition; (3) tonic-clonic activity in the right tibialis anterior muscle occurred at the end of seizures. Eleven subclinical seizures were recorded during sleep showing mild focal tonic EMG activity in right side trunk muscles. CONCLUSIONS Our findings evidenced early and somatotopically organized inhibition of voluntary movement at the beginning of epileptic seizures with fronto-mesial onset. The demonstration that speech and motor arrest were associated with progressive EMG suppression in cranial and limb muscles supports the hypothesis of motor inhibitory seizures originating in the mesial aspect of pre-motor frontal cortex.

Muscle ceroid lipofuscin‐like deposits in a patient with corticobasal syndrome due to a progranulin mutation

details refer to online supporting data). Consequently, mutant huntingtin could have directly or indirectly triggered a progressive loss of type II fibers and a concomitant gain in type I fibers, as previously suggested by Strand and colleagues. In previous studies, there is evidence that mutant huntingtin affects neuronal mitochondrial function and thereby inhibits oxidative phosphorylation. In analogy, the higher type I fiber distribution in HD patients could represent a compensation for the lower respiratory capacity of complex I and oxidative phosphorylation capacity. HD is associated with altered vastus lateralis muscle fiber type distribution and changes in mitochondrial function, potentially supporting mitochondrial dysfunction to be a pathogenic factor in HD. Hence, the present data supports previous findings suggesting skeletal muscle tissue as a potential marker of disease progression in HD patients. Nonetheless, further studies investigating the underlying mechanisms are required.

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing

Genetics is intricately involved in the etiology of neurodegenerative dementias. The incidence of monogenic dementia among all neurodegenerative forms is unknown due to the lack of systematic studies and of patient/clinician access to extensive diagnostic procedures. In this study, we conducted targeted sequencing in 246 clinically heterogeneous patients, mainly with early-onset and/or familial neurodegenerative dementia, using a custom-designed next-generation sequencing panel covering 27 genes known to harbor mutations that can cause different types of dementia, in addition to the detection of C9orf72 repeat expansions. Forty-nine patients (19.9%) carried known pathogenic or novel, likely pathogenic, variants, involving both common (presenilin 1, presenilin 2, C9orf72, and granulin) and rare (optineurin, serpin family I member 1 and protein kinase cyclic adenosine monophosphate (cAMP)-dependent type I regulatory subunit beta) dementia-associated genes. Our results support the use of an extended next-generation sequencing panels as a quick, accurate, and cost-effective method for diagnosis in clinical practice. This approach could have a significant impact on the proportion of tested patients, especially among those with an early disease onset.