Clinical and demographic characteristics of patients with functional movement disorders: a consecutive cohort study from a specialized clinic.

There is a growing interest in functional movement disorders (FMD). However, epidemiological data from large cohorts of patients with FMD are scarce and come mainly from General Neurology and Movement Disorders Clinics. Recently, specialized FMD clinics have been developed and epidemiological data from such clinics may provide useful information. We aimed to describe the clinical and sociodemographic features of patients diagnosed with FMD at our specialized FMD clinic. A standardized form was used to extract data from electronic records from the first-100 consecutive patients who were evaluated and diagnosed with FMD at our clinic from 2017 to 2019. Mean age was 40.88 ± (14.02) years, 63% females. Most patients were within working-age range, but only 16% were working at the time of consultation. Mean disease duration was 3.74 ± 5.73 years and was longer among men. The most common FMD were gait disturbance (42%), tremor (22%) and dystonia (15%). A precipitating event (mainly physical) was reported by 74%. The onset was mostly acute (83%) and the clinical course fluctuating (62%). Pain (64%) and fatigue (44%) were common comorbidities. Potential joint-hypermobility was present in 21%, mostly women (90%) and related to the presence of dystonia. FMD affects men and women mostly in working-age. Gait disturbance was the most common diagnosis, possibly because it causes a higher level of disability that may lead to consultation in a specialized clinic. Non-motor symptoms (pain and fatigue) were frequent in this cohort. Further data from specialized units may contribute to both understanding and management of FMD.

Antiphospholipid Antibodies Overlapping in Isolated Neurological Syndrome and Multiple Sclerosis: Neurobiological Insights and Diagnostic Challenges.

Antiphospholipid syndrome (APS) is characterized by arterial and venous thrombosis, pregnancy morbidity and fetal loss caused by pathogenic autoantibodies directed against phospholipids (PL) and PL-cofactors. Isolated neurological APS may represent a significant diagnostic challenge, as epidemiological, clinical and neuroimaging features may overlap with those of multiple sclerosis (MS). In an open view, MS could be considered as an organ-specific anti-lipid (phospholipid and glycosphingolipid associated proteins) disease, in which autoreactive B cells and CD8+ T cells play a dominant role in its pathophysiology. In MS, diverse autoantibodies against the lipid-protein cofactors of the myelin sheath have been described, whose pathophysiologic role has not been fully elucidated. We carried out a review to select clinical studies addressing the prevalence of antiphospholipid (aPL) autoantibodies in the so-called MS-like syndrome. The reported prevalence ranged between 2% and 88%, particularly aCL and aß2GPI, with predominant IgM isotype and suggesting worse MS prognosis. Secondarily, an updated summary of current knowledge on the pathophysiological mechanisms and events responsible for these conditions is presented. We draw attention to the clinical relevance of diagnosing isolated neurological APS. Prompt and accurate diagnosis and antiaggregant and anticoagulant treatment of APS could be vital to prevent or at least reduce APS-related morbidity and mortality.

Paraneoplastic stiff person syndrome with small cell carcinoma of the bladder and anti-Ri antibodies.

The stiff person syndrome is a rare neurological disorder, difficult to diagnose and to treat. Paraneoplastic patients usually present amphiphysin antibodies but the association with anti-Ri antibodies is less known. We present a case report of paraneoplastic SPS, small cell carcinoma of the bladder and anti-Ri antibodies.

Subjective Evaluation of Mood and Cognitive Functions in a General Neurology Clinic: Patients versus Informants.

BACKGROUND AND PURPOSE: We aimed to determine the correlation between subjective evaluations of mood and cognitive functions by patients and informants, and the findings of a battery of neuropsychological tests. METHODS: We analyzed 74 subjects recruited from a general neurology clinic, comprising 37 patients with cognitive complaints and 37 informants (either relatives or caregivers in close contact with the patients). Four ordinal scales concerning recent memory, verbal expression, initiative, and mood were correlated with the findings of a series of neuropsychological tests and questionnaires using the tau b coefficient. RESULTS: The scores for the patients on the scales were most strongly correlated with scores on the 15-item Geriatric Depression Scale (GDS-15), while the scores for the informants were most strongly correlated with scores on GDS-15, the Informant Questionnaire on Cognitive Decline, and the Functional Activities Questionnaire (FAQ). The most significant correlation was between the initiative scale from informants and FAQ (tau b=-0.591, p<0.001), and it was the only one that remained significant after correcting for multiple testing (p Holm=0.013). CONCLUSIONS: Cognitive complaints from patients mainly reflect their mood, whilst informant reports mainly reflect both the functional ability and mood of the patients.

Differential diagnosis of degenerative dementias using basic neuropsychological tests: multivariable logistic regression analysis of 301 patients.

BACKGROUND: The validity of neuropsychological tests for the differential diagnosis of degenerative dementias may depend on the clinical context. We constructed a series of logistic models taking into account this factor. METHODS: We retrospectively analyzed the demographic and neuropsychological data of 301 patients with probable Alzheimer's disease (AD), frontotemporal degeneration (FTLD), or dementia with Lewy bodies (DLB). Nine models were constructed taking into account the diagnostic question (eg, AD vs DLB) and subpopulation (incident vs prevalent). RESULTS: The AD versus DLB model for all patients, including memory recovery and phonological fluency, was highly accurate (area under the curve = 0.919, sensitivity = 90%, and specificity = 80%). The results were comparable in incident and prevalent cases. The FTLD versus AD and DLB versus FTLD models were both inaccurate. CONCLUSION: The models constructed from basic neuropsychological variables allowed an accurate differential diagnosis of AD versus DLB but not of FTLD versus AD or DLB.

Familial recurrent hypersomnia: two siblings with Kleine-Levin syndrome and menstrual-related hypersomnia.

Kleine-Levin syndrome and menstrual-related hypersomnia are rare idiopathic sleep disorders occurring primarily in adolescence. They are characterized by intermittent periods of excessive sleepiness, cognitive disturbances, and behavioral abnormalities. In both, the etiology remains unknown but autoinmune, hormonal, infectious, and inflammatory mechanisms have been proposed. The authors describe, for the first time, the association of Kleine-Levin syndrome and menstrual-related hypersomnia in 2 adolescent siblings who shared the human leukocyte antigen (HLA) loci DQB1*0501. The same haplotype has been associated with sleepwalking and with rapid eye movement (REM) sleep behavior disorder. This gender differences in the manifestation of a probably genetic influenced sleep disorder suggests that hormonal mechanisms could be implicated in the phenotypical expression of this sleep disorder. The male sibling with Kleine-Levin syndrome was easily controlled with carbamazepine in low doses, but his sister could be only efficaciously treated with oral contraceptives.

Gait disorders of unknown cause in the elderly: Clinical and MRI findings.

BACKGROUND: Disequilibrium of unknown cause in older people has been associated with white matter lesions on neuroimaging studies. OBJECTIVE: To investigate the relationship between gait and balance problems in the elderly, white matter hyperintensities, and vascular risk factors. METHODS: We studied clinical and neuroimaging features in 30 people older than 65 years of age with gait disorders of unknown cause and 30 age- and sex-matched controls. Patients and controls underwent the same extensive quantitative test battery. White matter lesions on MRI scans were graded in different brain regions. RESULTS: History of hypertension was more common among patients than controls (60% vs. 27%, p=0.012). On all scales, patients with gait disorders scored worse than controls. The frequency of white matter lesions was significantly higher in patients than in controls (p<0.001). In a multivariate logistic regression analysis in which diagnosis (patient vs. control) was the dependent variable, there was an association between diagnosis and white matter signal hyperintensity score (p<0.001) and history of hypertension (p=0.039). CONCLUSIONS: Gait disorders of unknown cause in older people are associated both with white matter lesions on MRI scans and with history of hypertension.

Hypnagogic behavior disorder: complex motor behaviors during wake-sleep transitions in 2 young children.

A nondescribed behavioral disorder was observed during wake-sleep transitions in 2 young children. Two boys had episodes of abnormal behavior in hypnagogic-and occasionally hypnopompic-periods for 1 year from the time they were 1 year and several months old. The episodes consisted of irregular body movements, which could be either gentle or violent but never made the children get out of bed. They lasted from a few seconds to 2 hours and were associated with poor reactivity and amnesia of the events. Electroencephalography (EEG) recordings showed wake-state features, with brief bursts of hypnagogic hypersynchrony, and did not display seizure activity. A distinctive behavior disorder occurring during wake-sleep transitions with a wake EEG pattern has been identified in very early childhood. The clinical profile does not fit any of the known parasomnias and might belong to a new category of parasomnia.

Hashimoto's encephalopathy mimicking migraine with aura.

We describe a patient with Hashimoto's encephalopathy presenting as long-standing episodes of aphasia associated with migraine-like headache. Repeated thyroid hormone levels were within normal values, but high titers of antithyroid antibodies in serum, and diffuse EEG slowing and CSF abnormalities during one episode led to the diagnosis.