Neurological Sciences

http://link.springer.com/journal/10072

List of Papers (Total 250)

Emotional consciousness preserved in patients with disorders of consciousness?

Increasing evidence from studies of brain responses to subject’s own name (SON) indicates that residual consciousness is preserved in patients with disorders of consciousness (DOC) and that specific network activation might provide evidence of consciousness. However, it remains unclear whether SON is suitable for detection of emotional consciousness; moreover, the particular...

Identification of a novel splice mutation in CTNNB1 gene in a Chinese family with both severe intellectual disability and serious visual defects

The CTNNB1 gene encode the β-catenin protein which is a core unit of the cadherin/catenin multiprotein complex. The loss-of-function mutation of the CTNNB1 gene recently has been confirmed as a cause of intellectual disability. Previous studies have found that patients with CTNNB1 gene mutation may have other clinical manifestation such as microcephaly, abnormal facial features...

Stress and perceived stigma among parents of children with epilepsy

PurposeThe present study aimed at understanding the stress and perceived stigma among parents of children with epilepsy seeking treatment at a tertiary referral center for neurology in South India.Materials and methodsParents of sixty children suffering from epilepsy in the age group of 4–15 years were interviewed to explore parental stress and perceived stigma. They were...

Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks

AimOur aim was to describe the rearrangements of the brain activity related to genetic mutations in the SPAST gene.MethodsTen SPG4 patients and ten controls underwent a 5 min resting state magnetoencephalography recording and neurological examination. A beamformer algorithm reconstructed the activity of 90 brain areas. The phase lag index was used to estimate synchrony between...

Cortical degeneration in chronic traumatic encephalopathy and Alzheimer’s disease neuropathologic change

ObjectivesAn observational study to compare the laminar distributions in frontal and temporal cortex of the tau-immunoreactive pathologies in chronic traumatic encephalopathy (CTE) and Alzheimer’s disease neuropathologic change (ADNC).PatientsPost-mortem material of (1) four cases of CTE without ADNC, (2) seven cases of CTE with ADNC (CTE/ADNC), and (3) seven cases of ADNC alone...

Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel

ObjectiveNarcolepsy is a lifelong disease, manifesting with excessive daytime sleepiness and cataplexy, arising between childhood and young adulthood. The diagnosis is typically made after a long delay that burdens the disease severity. The aim of the project, promoted by the “Associazione Italiana Narcolettici e Ipersonni” is to develop Red Flags to detect symptoms for early...

Systematic literature review on the delays in the diagnosis and misdiagnosis of cluster headache

IntroductionPatients with cluster headache (CH), the most common trigeminal autonomic cephalalgia, often face delayed diagnosis, misdiagnosis and mismanagement.ObjectivesTo identify, appraise and synthesise clinical studies on the delays in diagnosis and misdiagnosis of CH in order to determine its causes and help the management of this condition.MethodsThe systematic review was...

Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant

Biallelic mutations of the alsin Rho guanine nucleotide exchange factor (ALS2) gene cause a group of overlapping autosomal recessive neurodegenerative disorders including infantile-onset ascending hereditary spastic paralysis (IAHSP), juvenile primary lateral sclerosis (JPLS), and juvenile amyotrophic lateral sclerosis (JALS/ALS2), caused by retrograde degeneration of the upper...

Klotho protein in neurodegenerative disorders

The Klotho protein is a recently discovered protein and its overexpression is associated with life extension. Klotho deficiency or silencing of the Klotho gene in mice leads to an accelerated aging and short life, whereas overexpression of Klotho in mice extends lifespan. Klotho participates in many metabolic pathways and is highly expressed in the kidneys, the choroid plexus and...

Embolic strokes of undetermined source in a cohort of Polish stroke patients

We aimed to provide a descriptive analysis of embolic stroke of undetermined etiology (ESUS) population based on a long-term prospective stroke registry. We retrospectively analyzed data collected in a detailed registry regarding consecutive patients admitted for first-ever ischemic stroke (IS) between January 2001 and December 2015. We used Org 10172 in Acute Stroke Treatment...