Erratum: Neurofilament light chain and vaccination status associate with clinical outcomes in severe COVID-19.

[This corrects the article DOI: 10.1016/j.isci.

First families with spinocerebellar ataxia type 7 in Poland.

Introduction: We present the first two Polish families diagnosed with spinocerebellar ataxia type 7 (SCA7) and draw attention to cardiac involvement as a new potential manifestation of this disease.

Material And Methods: Two well-documented kindreds are presented.

Results: The proband from Family 1 presented aged 54 years with vision worsening followed by progressive imbalance.

Management of Poor-Grade Aneurysmal Subarachnoid Hemorrhage and Key Pearls for Achieving Favorable Outcomes: An Illustrative Case.

Poor-grade aneurysmal subarachnoid hemorrhage (aSAH) is associated with high patient mortality. Despite recent advances in management strategies, the prognosis for poor-grade aSAH remains dismal. We present a challenging case of a patient presenting with poor-grade aSAH.

Expanding the spectrum of mutations-case report of a large kindred with familial ALS and overlapping syndrome.

Objectives: This paper presents the first report of amyotrophic lateral sclerosis (ALS) kindred due to the p.Arg1007Lys, a splice-altering variant.

Methods: An index case was a 54-year-old male who developed progressive gait difficulty and imbalance followed by mild parkinsonism, spasticity, neuropathy, ataxia, and cognitive impairment with predominant subcortical frontal involvement.

First report on spinocerebellar ataxia type 3 (Machado-Joseph disease) in Poland.

Spinocerebellar ataxia type 3 (SCA3; Machado-Joseph disease, MJD) is the most common autosomal-dominant form of genetic ataxia worldwide. However, it has never been reported in Eastern Europe. This letter presents the first three families with SCA3 from Poland and discusses the practical implications of the disease for clinicians.

Neurofilament light chain and vaccination status associate with clinical outcomes in severe COVID-19.

Blood neurofilament light chain (NFL) is proposed to serve as an estimate of disease severity in hospitalized patients with coronavirus disease 2019 (COVID-19). We show that NFL concentrations in plasma collected from 880 patients with COVID-19 within 5 days of hospital admission were elevated compared to controls. Higher plasma NFL associated with worse clinical outcomes including the need for mechanical ventilation, intensive care, prolonged hospitalization, and greater functional disability at discharge.

PLA2G6-associated neurodegeneration in four different populations-case series and literature review.

Background: PLA2G6-Associated Neurodegeneration, PLAN, is subdivided into: Infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, and adult-onset dystonia parkinsonism [1]. It is elicited by a biallelic pathogenic variant in phospholipase A2 group VI (PLA2G6) gene. In this study we describe new cases and provide a comprehensive review of previously published cases.

Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3.

Background And Purpose: Clinical trials in spinocerebellar ataxia type 3 (SCA3) will require biomarkers for use as outcome measures.

Methods: To evaluate total tau (t-tau), glial fibrillary acidic protein (GFAP), ubiquitin carboxy-terminal hydrolase L1 (UCHL1) and neurofilament light-chain (NfL) as fluid biomarkers in SCA3, ATXN3 mutation carriers (n = 143) and controls (n = 172) were clinically assessed, and the plasma concentrations of the four proteins were analysed on the Simoa HD-1 platform. Eleven ATXN3 mutation carrier cerebrospinal fluid samples were analysed for t-tau and phosphorylated tau (p-tau ).

Hematologic Emergencies in the Postoperative Neurointensive Care Unit Setting: Illustrative Case Series and Differential Diagnosis.

Objectives: Investigating the development of acute thrombocytopenia, differential etiologies, and potentially the rare manifestation of disseminated intravascular coagulation after brain tumor resection of primary and secondary malignancies.

Materials And Methods: We performed a retrospective review of a case series of post-operative neurosurgical patients which developed thrombocytopenia. We applied National Library of Medicine search engine methodology using the terms disseminated intravascular coagulation and brain tumors.

Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3.

Introduction: Accumulation of polyglutamine (polyQ) ataxin-3 (ATXN3) contributes to the pathobiology of spinocerebellar ataxia type 3 (SCA3). Recently, we showed that polyQ ATXN3 is elevated in the plasma and cerebrospinal fluid (CSF) of SCA3 patients, and has the potential to serve as a biological marker for this disease [1]. Based on these findings, we investigated whether polyQ ATXN3 can also be detected in urine samples from SCA3 patients.

The AD tau core spontaneously self-assembles and recruits full-length tau to filaments.

Tau accumulation is a major pathological hallmark of Alzheimer's disease (AD) and other tauopathies, but the mechanism(s) of tau aggregation remains unclear. Taking advantage of the identification of tau filament cores by cryoelectron microscopy, we demonstrate that the AD tau core possesses the intrinsic ability to spontaneously aggregate in the absence of an inducer, with antibodies generated against AD tau core filaments detecting AD tau pathology. The AD tau core also drives aggregation of full-length wild-type tau, increases seeding potential, and templates abnormal forms of tau present in brain homogenates and antemortem cerebrospinal fluid (CSF) from patients with AD in an ultrasensitive real-time quaking-induced conversion (QuIC) assay.

Early-Onset Parkinson Disease Screening in Patients From Nigeria.

Nigeria is one of the most populated countries in the world; however, there is a scarcity of studies in patients with age-related neurodegenerative diseases, such as Parkinson disease (PD). The aim of this study was to screen patients with PD including a small cohort of early-onset PD (EOPD) cases from Nigeria for multiplication, and LRRK2 p.G2019S.

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.

Spinocerebellar ataxia type 3 (SCA3), caused by a CAG repeat expansion in the ataxin-3 gene (), is characterized by neuronal polyglutamine (polyQ) ATXN3 protein aggregates. Although there is no cure for SCA3, gene-silencing approaches to reduce toxic polyQ ATXN3 showed promise in preclinical models. However, a major limitation in translating putative treatments for this rare disease to the clinic is the lack of pharmacodynamic markers for use in clinical trials.

Spinocerebellar ataxia type 6 family with phenotypic overlap with Multiple System Atrophy.

Aim Of The Study: Multiple system atrophy (MSA) and spinocerebellar ataxia (SCA) share similar symptomatology. We describe a rare occurrence of familial MSA that proved to be SCA6 upon genetic analysis.

Materials And Methods: Eighty MSA patients were enrolled in our study; blood samples were collected and genetic screening of the familial case for known SCA loci was performed.

Rapidly Resolving and Recurrent Contralateral Subdural Hematoma From Disseminated Intravascular Coagulation.

Background: Acute, recurrent subdural hematoma (SDH) is a rare entity in the absence of trauma. Atraumatic SDH may be due to vascular disorders, coagulopathies, or intracranial hypotension. It is a rare complication of disseminated intravascular coagulation (DIC), with no prior reports in patients with intracranial metastatic colon cancer (MCC).

Progressive supranuclear palsy is not associated with neurogenic orthostatic hypotension.

Objective: To evaluate the pattern and severity of autonomic dysfunction in autopsy-confirmed progressive supranuclear palsy (PSP) compared to α-synuclein pathology.

Methods: Autopsy-confirmed cases of 14 patients with PSP, 18 with multiple system atrophy (MSA), and 24 with Lewy body disease (LBD) with antemortem autonomic testing were reviewed retrospectively. All patients underwent comprehensive clinical evaluations by a movement disorder specialist, formal autonomic testing, and postmortem examinations at Mayo Clinic.

TRIO gene segregation in a family with cerebellar ataxia.

Aim Of The Study: To report a family with a novel TRIO gene mutation associated with phenotype of cerebellar ataxia.

Materials And Methods: Seven family members of Caribbean descent were recruited through our ataxia research protocol; of the family members, the mother and all 3 children were found to be affected with severe young-onset and rapidly progressive truncal and appendicular ataxia leading to early disability. Array comparative genomic hybridization, mitochondrial DNA analysis, and whole-exome sequencing were performed on 3 of the family members (mother and 2 daughters).

Biomarkers of Nonmotor Symptoms in Parkinson's Disease.

Biomarkers are helpful for early diagnosis, assessment of disorder severity, prognosis, and prediction of response to therapy. Given that early therapeutic intervention may be useful in forestalling or slowing neurodegenerative conditions, employing reliable biomarkers to identify asymptomatic individuals who are destined to develop clinical Parkinson's disease (PD) is critical. Two important observations have been repeatedly found in persons who eventually develop clinical PD: (1) significant neuronal loss occurs in the substantia nigra and (2) the presence of nonmotor symptoms (NMS).