Gender may be related to the side of the motor syndrome and cognition in idiopathic Parkinson's disease.

BACKGROUND: and Sex and cognitive profile may be related to the laterality of motor symptoms in idiopathic Parkinson's disease. INTRODUCTION: Parkinson's disease (PD) is well recognised as an inherently asymmetric disease with unilateral onset of motor symptoms. The laterality of motor symptoms may be linked to sex, clinical and demographic variables, and neuropsychological disorders. However, the available data are inconsistent. This study aimed to explore the potential association between the laterality of motor symptoms and clinical and demographic variables and deficits in specific cognitive domains. MATERIAL AND METHODS: We retrospectively recruited 97 participants with idiopathic PD without dementia; 60 presented motor symptoms on the left side and 37 on the right side. Both groups were comparable in terms of age, age at disease onset, disease duration, and severity of the neurological deficits according to the Unified Parkinson's Disease Rating Scale and the Hoehn and Yahr scale. RESULTS: Participants with left-side motor symptoms scored lower on the Schwab and England Activities of Daily Living scale. Our sample included more men than women (67% vs. 33%). Both sexes were not equally represented in the 2 groups: there were significantly more men than women in the group of patients with left-side motor symptoms (77% vs. 23%), whereas the percentages of men and women in the group of patients with right-side motor symptoms were similar (51% vs. 49%). Both groups performed similarly in all neuropsychological tasks, but women, independently of laterality, performed better than men in the naming task. CONCLUSION: We found a clear prevalence of men in the group of patients with left-side motor symptoms; this group also scored lower on the Schwab and England Scale. Female sex was predictive of better performance in the naming task. Sex should always be considered in disorders that cause asymmetric involvement of the brain, such as PD.

Polypharmacy is a determinant of hospitalization in Parkinson's disease.

OBJECTIVE: Patients with Parkinson's disease (PD) are at a higher risk of hospitalization and recurrent hospitalizations, with consequent complications. Polypharmacy is associated with several adverse outcomes, including hospitalization, increased length of hospital stay, and mortality. The aim of this study was to evaluate among patients with PD the association between the number of medications and incident hospitalizations. PATIENTS AND METHODS: We analysed the data of 165 patients with Parkinson's disease attending a geriatric Day Hospital who were enrolled in a cohort study and followed for a median of two years. RESULTS: Over the follow-up, 46 participants (46%) were hospitalized at least one time; multiple admissions were observed in 12 subjects (7%). The median number of agents was 5 (4-7). In Cox regression, the number of drugs was associated with increased hospitalization rates (HR=1.23; 95% CI=1.06-1.43), also after excluding non-neurological medications (HR=1.18; 95% CI=1.01-1.38). Using Poisson regression, polypharmacy (i.e., use of >5 drugs) predicted the number of repeated hospitalizations (IRR=2.62; 95% CI=1.28-5.36; p=.008). CONCLUSIONS: Among patients with PD, the number of daily medications is associated with increased risk of hospitalization; an increasing number of drugs is associated with increasing number of hospitalizations.

Gender may be related to the side of the motor syndrome and cognition in idiopathic Parkinson's disease.

BACKGROUND: and Sex and cognitive profile may be related to the laterality of motor symptoms in idiopathic Parkinson's disease. INTRODUCTION: Parkinson's disease (PD) is well recognised as an inherently asymmetric disease with unilateral onset of motor symptoms. The laterality of motor symptoms may be linked to sex, clinical and demographic variables, and neuropsychological disorders. However, the available data are inconsistent. This study aimed to explore the potential association between the laterality of motor symptoms and clinical and demographic variables and deficits in specific cognitive domains. MATERIAL AND METHODS: We retrospectively recruited 97 participants with idiopathic PD without dementia; 60 presented motor symptoms on the left side and 37 on the right side. Both groups were comparable in terms of age, age at disease onset, disease duration, and severity of the neurological deficits according to the Unified Parkinson's Disease Rating Scale and the Hoehn and Yahr scale. RESULTS: Participants with left-side motor symptoms scored lower on the Schwab and England Activities of Daily Living scale. Our sample included more men than women (67% vs. 33%). Both sexes were not equally represented in the 2 groups: there were significantly more men than women in the group of patients with left-side motor symptoms (77% vs. 23%), whereas the percentages of men and women in the group of patients with right-side motor symptoms were similar (51% vs. 49%). Both groups performed similarly in all neuropsychological tasks, but women, independently of laterality, performed better than men in the naming task. CONCLUSION: We found a clear prevalence of men in the group of patients with left-side motor symptoms; this group also scored lower on the Schwab and England Scale. Female sex was predictive of better performance in the naming task. Sex should always be considered in disorders that cause asymmetric involvement of the brain, such as PD.

Assessment of neurological manifestations in hospitalized patients with COVID-19.

BACKGROUND AND PURPOSE: The objective of this study was to assess the neurological manifestations in a series of consecutive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-positive patients, comparing their frequency with a population hospitalized in the same period for flu/respiratory symptoms, finally not related to SARS-CoV-2. METHODS: Patients with flu/respiratory symptoms admitted to Fondazione Policlinico Gemelli hospital from 14 March 2020 to 20 April 2020 were retrospectively enrolled. The frequency of neurological manifestations of patients with SARS-CoV-2 infection was compared with a control group. RESULTS: In all, 213 patients were found to be positive for SARS-CoV-2, after reverse transcriptase polymerase chain reaction on nasal or throat swabs, whilst 218 patients were found to be negative and were used as a control group. Regarding central nervous system manifestations, in SARS-CoV-2-positive patients a higher frequency of headache, hyposmia and encephalopathy always related to systemic conditions (fever or hypoxia) was observed. Furthermore, muscular involvement was more frequent in SARS-CoV-2 infection. CONCLUSIONS: Patients with COVID-19 commonly have neurological manifestations but only hyposmia and muscle involvement seem more frequent compared with other flu diseases.

Laterality in Parkinson's disease may predict motor and visual imagery abilities.

Experimental evidence suggests that motor imagery (MI) engages the same neural substrates supporting actual motor activities and is likely impaired when such substrates are damaged, as in Parkinson's disease (PD). MI intuitively relies on visual imagery (VI), because mental simulations of physical movements depend on the visual retrieval of these movements. Although VI is generally considered a right hemispheric function, the hemispheric dominance of MI is still in dispute. Disparities in sidedness of motor disturbances are a distinctive feature of PD, and recent findings indicate that such disparities may similarly characterize cognition. Specifically, the deficits observed may depend upon which hemisphere is principally involved. Essentially, MI and VI are cognitive tasks subject to differential impairment and reflecting the prevalence of hemispheric impairment in PD. Motor imagery (assessed by the Vividness of Motor Imagery Questionnaire [VMIQ]) and VI (assessed by the Vividness of Visual Imagery Questionnaire [VVIQ] and Test of Visual Imagery Control [TVIC]) were examined in patients with asymmetric PD and in healthy elderly control subjects (HC group). VMIQ scores were similar in PD laterality subsets and the HC group, but VVIQ scores were significantly lower in both PD groups compared with the HC group. TVIC scores were significantly lower in the presence of left motor (right hemispheric) impairment and were predictive of left motor (right hemispheric) impairment. We suspect that MI is strongly reliant on VI and that language may mediate these two functions, to the extent that both are evoked through verbal stimuli. Working memory, both visual and verbal, is also involved in MI and VI tasks. Without due attention to laterality of symptoms, any training incorporating MI and VI may not deliver expected outcomes in the setting of asymmetric PD symptomatology.

Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience.

BACKGROUND AND PURPOSE: Peripheral neuropathy in mitochondrial diseases (MDs) may vary from a subclinical finding in a multisystem syndrome to a severe, even isolated, manifestation in some patients. METHODS: To investigate the involvement of the peripheral nervous system in MDs extensive electrophysiological studies were performed in 109 patients with morphological, biochemical and genetic diagnosis of MD [12 A3243G progressive external ophthalmoplegia (PEO)/mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), 16 myoclonic epilepsy with ragged-red fibres (MERRF), four mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), 67 PEO with single or multiple deletions of mitochondrial DNA, 10 others]. RESULTS: A neuropathy was found in 49 patients (45%). The incidence was very high in MNGIE (100%), MELAS (92%) and MERRF (69%), whilst 28% of PEO patients had evidence of peripheral involvement. The most frequent abnormality was a sensory axonal neuropathy found in 32/49 patients (65%). A sensory-motor axonal neuropathy was instead detected in 16% of the patients and sensory-motor axonal demyelinating neuropathy in 16%. Finally one Leigh patient had a motor axonal neuropathy. It is interesting to note that the great majority had preserved tendon reflexes and no sensory disturbances. CONCLUSIONS: In conclusion, peripheral involvement in MD is frequent even if often mild or asymptomatic. The correct identification and characterization of peripheral neuropathy through electrophysiological studies represents another tile in the challenge of MD diagnosis.

Clinical and pathological heterogeneity in a series of 31 patients with IgM-related neuropathy.

BACKGROUND: IgM-related neuropathy generally presents as a late-onset demyelinating polyneuropathy with predominant sensory loss and ataxia. Sporadic cases with atypical presentation have been described. PATIENTS AND METHODS: We report clinical and pathological findings from 31 patients with IgM-related neuropathy followed in our Institute of Neurology over a 20-year period. RESULTS: Typical presentation with predominant sensory ataxic neuropathy was observed in 18/31 patients. In the remaining 13/31 (42%), we observed an atypical phenotype, characterized by multiple mononeuropathy or polyneuropathy with predominant motor impairment; one patient had polyneuropathy with predominant small-fibre involvement. Uncommon pathological findings consisting in inflammatory infiltrates, focal axonal loss or light chain deposition were observed in 8 patients, all with atypical clinical phenotype. Almost all patients with atypical phenotype improved with immunosuppressive therapy. CONCLUSIONS: A significant proportion of patients with IgM-related neuropathy presents with atypical clinical features. In these patients, sural nerve biopsy helps clarify heterogeneous disease mechanisms and identify patients who might benefit from immunosuppressive therapy.

Natural history of young-adult amyotrophic lateral sclerosis.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) affects people of all ages, but whether the wide range of age at onset is due to distinct diseases or merely reflects phenotypic variability of the same disorder is still unknown. The purpose of this study is to describe clinical and prognostic features of young-adult ALS, with onset before age 40 years, and to compare them with features of the common adult-onset type. METHODS: We analyzed clinical features and long-term follow-up of 57 young-adult ALS patients, with disease onset between 20 and 40 years, and compared them with 450 patients affected by adult-onset ALS. RESULTS: We found that the majority of young-adult patients showed a predominant upper motor neuron (p-UMN) ALS, characterized by marked spastic paraparesis, with lower motor neuron signs confined to the upper limbs. The proportion of patients with p-UMN ALS phenotype was 59.6% in the young-adult patients and 17.4% in the adult-onset form (p < 0.0001). Young-adult ALS with p-UMN phenotype had longer survival than did the classic phenotype: median survival was 74 months (range 10-226, 95% CI 60.61-87.38) in the former and 56 months (range 6-106, 95% CI 48.65-63.34) in the latter (p = 0.03). In the young-adult patients, a marked male excess was observed in the p-UMN ALS group (5.8:1), whereas the ratio of men to women was 1.1:1 in the classic phenotype (p = 0.01). CONCLUSIONS: Our findings show that young-adult amyotrophic lateral sclerosis with the predominant upper motor neuron phenotype represents a distinctive clinical variant characterized by a unique clinical pattern, longer survival, and male prevalence.

Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease.

We describe three brothers suffering from Krabbe's disease with onset in the fifth decade. The proband showed a complete deficiency of leukocyte enzyme galactocerebrosidase and was found to be heterozygous for two previously described mutations: G > A809 and 502T/del consisting of a 30 kb deletion. In all three brothers the neurological examination showed features of asymmetrical peripheral neuropathy associated with pyramidal signs and the electrophysiological examination showed a generalized slowing of nerve conduction velocities. Two patients died at 59 and 61 years of age due to respiratory failure. Both the proband and his brother underwent a sural nerve biopsy. In the former the most striking finding was the presence of uniformly thin myelin sheaths without evidence of demyelination; a complete absence of fibers was found in the latter. Our findings confirm that peripheral neuropathy may be the presenting feature of late-onset Krabbe's disease. Hypomyelination rather than demyelination may represent the distinguishing pathological finding of this condition.

Multiperspective assessment of carpal tunnel syndrome: a multicenter study. Italian CTS Study Group.

OBJECTIVE: To assess the clinical and neurophysiologic dissociation often observed in clinical practice, and to improve patient evaluation for diagnosis of carpal tunnel syndrome (CTS). METHODS: The Italian CTS Study Group studied 1,123 idiopathic CTS hands with multiple measurements-clinical, neurophysiologic, and patient-oriented-of CTS. RESULTS: Clinical and neurophysiologic relationships were very strong when the clinical picture was evaluated by the hand functional measurements, with an exponential increase in functional impairment as the classification of neurophysiologic severity progressed. Conversely, symptoms and pain did not increase as the classification of neurophysiologic severity progressed: 1) A large part of the CTS population complained of severe symptoms, although minimal functional impairment and minimal or no electrophysiologic abnormalities were observed; and 2) symptoms improved in the patients with more severe neurophysiologic and clinical examination scenarios. CONCLUSIONS: Multiperspective and multimeasurement assessment, even when using a validated patient-oriented tool, provided interesting information that confirmed and clarified the clinical neurophysiologic dissociation often observed in carpal tunnel syndrome (CTS) patients. Furthermore, CTS appeared to be an ideal model for evaluating the importance of patient-oriented measurement.

Multiple paraneoplastic diseases associated with thymoma.

Here we report a patient with a lymphoepithelial thymoma who developed in chronological sequence limbic encephalitis, neuromyotonia and myasthenia gravis. The patient presented with limbic encephalitis associated with an invasive thymoma and improved after surgery and cytotoxic therapy. Two months after thymectomy, neuromyotonia associated with hyperhidrosis and mild motor neuropathy occurred and the patient was given plasma-exchange and prednisone therapy. Five months later he developed mild generalised myasthenia gravis. Anti-acetylcholine receptor antibodies, previously repeatedly negative, were found positive at the onset of clinical signs of myasthenia gravis.

Italian multicentre study of carpal tunnel syndrome: clinical-neurophysiological picture and diagnostic pathway in 461 patients and differences between the populations enrolled in the northern, central and southern centres. Italian CTS Study Group.

The economic trend in our country, as in other countries, now requires us to pay more attention to the social and economic aspects of health. Therefore, it is important to evaluate the diagnostic pathway and the socioeconomic aspects of pathologies. The Italian CTS Study Group performed a wide multicentre and multidimensional study (through a patient-, physician- and neurophysiologically oriented evaluation) on 461 idiopathic CTS patients to evaluate the clinical-neurophysiological picture and the diagnostic pathway. The whole population and the differences between the populations enrolled in the neurophysiological centres of the northern, central and southern parts of Italy were analysed. This study provided new and interesting information. As concerns the whole population, we observed different diagnostic pathways in relation to the level of schooling. As concerns the comparison of the populations, the southern centres have a population of CTS patients with higher frequency of hand stress and more severe nerve impairment.

Usefulness of segmental and comparative tests in the electrodiagnosis of carpal tunnel syndrome: the Italian multicenter study. Italian CTS Study Group.

The Italian CTS Study Group performed a wide multicentric and multiparametric study to quantify the increase of electrodiagnostic sensitivity using an extended neurophysiological protocol and particularly segmental and comparative tests. The study also evaluated the clinical features of carpal tunnel syndrome (CTS) diagnosed by these tests, using validated physician- and patient-oriented measurements. The study group was composed of 740 patients for a total of 1123 idiopathic CTS hands. Overall, the sensitivity of standard tests (median digit-wrist sensory conduction velocity and wrist-thenar distal motor latency) was 83.5%. Comparative/segmental tests disclosed abnormal findings in a further 11.4% of cases, providing CTS electrodiagnosis in about 7 of 10 "standard negative" cases. The overall sensitivity of the electrodiagnostic protocol was 94.9%. The CTS population diagnosed by segmental/comparative tests had a clinical picture characterized by a high percentage of pain, and severe discomfort but no limitation in functional daily activity. Our data confirm the usefulness of a complete neurophysiological assessment by using segmental/comparative tests when standard tests yield normal results.

Carpal tunnel syndrome: indication for surgical treatment based on electrophysiologic study.

A prospective study of 50 hands from 45 consecutive patients surgically treated for idiopathic carpal tunnel syndrome was conducted to determinate the recovery capacity of the median nerve after open surgical release. Subjects were evaluated by clinical history, physical examination, and electrophysiologic testing. Motor and sensory terminal latencies and motor and sensory conduction velocities were examined before surgery and 2 weeks, 2 months, and 6 months after surgical decompression. All patients showed improvement of postoperative electrophysiologic values; the amount of improvement was dependent on the degree of preoperative impairment. Complete restoration of clinical and electrophysiologic nerve function was observed only in patients with mild carpal tunnel syndrome.