Journal of Neurology

We perform classification, ranking and mapping of body sway parameters from static posturography data of patients using recent machine-learning and data-mining techniques. Body sway is measured in 293 individuals with the clinical diagnoses of acute unilateral vestibulopathy (AVS, n = 49), distal sensory polyneuropathy (PNP, n = 12), anterior lobe cerebellar atrophy (CA, n = 48), downbeat nystagmus syndrome (DN, n = 16), primary orthostatic tremor (OT, n = 25), Parkinson's disease (PD, n = 27), phobic postural vertigo (PPV n = 59) and healthy controls (HC, n = 57)...

Mutations of myelin protein zero gene (MPZ) are found in 5% of Charcot-Marie-Tooth patients. In 2004, Shy et al. identified two main phenotypes associated with them: an early-onset subtype with mainly demyelinating features and a late-onset subgroup with prominent axonal impairment. We evaluated whether novel MPZ mutations described in literature during the last 14 years could still fit with this classification. We collected and revised reports of 69 novel MPZ mutations. Almost 90% of them could be alternatively classified as responsible for: (a) an early-onset phenotype, with first limitations starting before 3 years (2...

BACKGROUND: The use of mechanical thrombectomy (MT) for acute ischemic stroke (AIS) patients has increased with a parallel burden in procedural costs. We tested whether a new prognostic score could identify patients who are unlikely to benefit from MT. METHODS: Patients from our endovascular stroke registry were assessed for imaging and clinical outcome measures and randomly divided into two subsets for derivation and validation. We created a new prognostic score based on clinical and radiological prognostic factors of poor outcome (mRS score ≥ 3) from the derivation cohort...

BACKGROUND AND PURPOSE: Data on procedure time (PT) for mechanical thrombectomy (MT) are scarce. Moreover, the relationship among PT, postprocedural hemorrhagic transformation (HT), and functional outcomes in MT patients remains unclear. We investigated whether postprocedural HT mediated the relationship between PT and functional outcomes in patients with stent-retriever thrombectomy. METHODS: We retrospectively analyzed consecutive patients who underwent MT at two comprehensive stroke centers...

Vestibulo-ocular reflexes (VOR) are mediated by frequency-tuned pathways that separately transform the different dynamic and static aspects of head motion/position-related sensory signals into extraocular motor commands. Voltage-dependent potassium conductances such as those formed by Kv1.1 are important for the ability of VOR circuit elements to encode highly transient motion components. Here we describe the impact of the Kv1.1 channel blocker 4-aminopyridine (4-AP) on spontaneous and motion-evoked discharge of superior oblique motoneurons...

BACKGROUND: Once adults with long-standing idiopathic generalised epilepsy have achieved stable seizure remission, patients or physicians may attempt to discontinue their antiepileptic drug treatment. To date, risk of subsequent seizure relapse across the four idiopathic generalised epilepsy syndromes is largely unknown, and so are the clinical variables associated. METHODS: For this retrospective observational study, 256 adult outpatients with idiopathic generalised epilepsy were evaluated...

OBJECTIVE: The aim of this study is to assess the impact of age at onset on the prognostic value of Alzheimer's biomarkers in a large sample of patients with mild cognitive impairment (MCI). METHODS: We measured Aβ42, t-tau, hippocampal volume on magnetic resonance imaging (MRI) and cortical metabolism on fluorodeoxyglucose-positron emission tomography (FDG-PET) in 188 MCI patients followed for at least 1 year. We categorised patients into earlier and later onset (EO/LO)...

Autosomal dominant limb girdle muscular dystrophy D3 HNRNPDL-related is a rare dominant myopathy caused by mutations in HNRNPDL. Only three unrelated families have been described worldwide, a Brazilian and a Chinese carrying the mutation c.1132G>A p.(Asp378Asn), and one Uruguayan with the mutation c.1132G>C p. (Asp378His), both mutations occurring in the same codon. The present study enlarges the clinical, morphological and muscle MRI spectrum of AD-HNRNPDL-related myopathies demonstrating the significant particularities of the disease...

No abstract text is available yet for this article.

BACKGROUND/AIMS: To validate the use of the Test Your Memory (TYM) test in dementias other than Alzheimer's disease, and to compare the TYM test to two other short cognitive tests. METHODS: One hundred and fifty-seven patients with dementia other than typical Alzheimer's disease were recruited from a specialist memory clinic. Patients completed the TYM test, the revised Addenbrooke's Cognitive Examination (ACE-R) and Mini-Mental State Examination (MMSE), plus neurological examination, clinical diagnostics and multi-disciplinary team review...

No abstract text is available yet for this article.

BACKGROUND: Prospective memory (PM) is defined as memory for future intentions and it is typically divided into time-based and event-based PM. Deficit of PM has been reported in patients with Parkinson's disease (PD) but no study has yet explored the association between motor subtypes (tremor dominant and rigidity/bradykinesia dominant) and performance on PM tasks. The aim of the study was to explore the role of motor subtypes in the defect of PM. METHODS: Consecutive outpatients with tremor dominant (TD-PD) or rigidity/bradykinesia dominant (PIGD-PD) PD and healthy subjects (HCs) were enrolled and underwent a neuropsychological battery assessing PM, verbal memory and executive functions and questionnaires assessing apathy, functional autonomy, and perceived memory disturbances...

BACKGROUND: Late-onset Pompe disease (LOPD) is an often misdiagnosed inherited myopathy for which treatment exists. We noticed a bright tongue sign on brain MRIs of two patients who were admitted to the ICU for respiratory failure of unclear origin, and who were eventually diagnosed with LOPD. This led us to systematically review brain MRIs of patients with LOPD and various other neuromuscular disorders (NMD). MATERIALS AND METHODS: Chart and brain MRI review of patients with LOPD and other NMD...

OBJECTIVE: To evaluate the effect of discontinuation of different disease-modifying therapies (DMTs) before pregnancy with respect to the occurrence of relapses and pregnancy outcomes. METHODS: Women with multiple sclerosis who desire to bear children were followed prospectively. Demographic data, clinical characteristics, and the information on the use of DMTs were collected. A multivariate analysis was used to assess the relationship between relapses and the prior use of different DMTs...

OBJECTIVE: Although post-stroke cognitive deficit can significantly limit patient independence and social re-integration, clinical routine predictors for this condition are lacking. 'Cognitive reserve' limits the detrimental effects of slowly developing neurodegeneration. We aimed to determine whether comparable effects also exist in acute stroke. Using 'years of education' as a proxy, we investigated whether cognitive reserve beneficially influences cognitive performance and disability after stroke, whilst controlling for age and lesion size as measure of stroke pathology...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

BACKGROUND: Facial nerve palsy is the most common cranial nerve disorder. There is no consensus on a single diagnostic tool deemed as the 'gold standard' for distinguishing between idiopathic (Bell's palsy) and symptomatic causes. The diagnosis is one of exclusion and most often made on physical examination. In the present study, we describe the etiological background of peripheral facial palsy in N = 509 patients and evaluate the relevance of cerebrospinal fluid (CSF) analysis and magnetic resonance imaging (MRI) in differential diagnosis...

OBJECTIVE: To characterize the clinical symptoms and magnetic resonance imaging (MRI) findings of unilateral cortical FLAIR-hyperintense Lesions in Anti-MOG-associated Encephalitis with Seizures (FLAMES). METHODS: This is a case report and systematic review of the literature to identify cases of unilateral cortical FLAMES. Cases were reviewed to determine the frequency of clinical symptoms (seizures, headache, fever and cortical symptoms referable to FLAMES location), and to determine whether MRI abnormalities are restricted to the unilateral cortex in this syndrome...

High blood pressure (BP) is the leading modifiable risk factor of stroke worldwide. Although randomized clinical trials have demonstrated the beneficial effect of BP reduction on stroke risk, there are still insufficiently explored issues concerning the optimal personalized management of BP in stroke patients in terms of thresholds to be achieved and drug classes to be prescribed. Few data are available about BP control in specific clinical contexts such as in older patients, in various stroke subtypes, or in association with co-morbidities such as diabetes...