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Superior sagittal sinus thrombosis in the course of mixed phenotype acute leukaemia treated with acute lymphoblastic leukaemia-like therapy—a case report
Mixed phenotype acute leukaemia (MPAL) is associated with worse overall survival, compared with other acute leukaemias in adults. Lack of clear...
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Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39
ObjectivesThe term hereditary spastic paraplegia comprises an ever-expanding array of neurological disorders with distinct aetiologies. Spastic...
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Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype–phenotype correlation
BackgroundIsolated sulfite oxidase deficiency (ISOD) caused by sulfite oxidase gene ( SUOX ) mutations is a rare neurometabolic disease associated...
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Differential diagnosis of Huntington’s disease− neurological aspects of NKX2-1-related disorders
Benign hereditary chorea (BHC) is an inherited neurological disorder consisting of childhood-onset, nonprogressive chorea, generally without any...
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Genotype–phenotype correlations of neurofibromatosis type 1: a cross-sectional study from a large Chinese cohort
BackgroundNeurofibromatosis type 1 (NF1) is a highly heterogeneous autosomal genetic disorder characterized by a broad spectrum of clinical and...
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Analysis of risk factors for neurological symptoms in patients with purely hepatic Wilson’s disease at diagnosis
ObjectiveTo analyze and explore the risk factors for neurological symptoms in patients with purely hepatic Wilson's disease (WD) at diagnosis.
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Headache, anosmia, ageusia and other neurological symptoms in COVID-19: a cross-sectional study
BackgroundNeurological symptoms are frequent among patients with COVID-19. Little is known regarding the repercussions of neurological symptoms for...
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The molecular landscape of neurological disorders: insights from single-cell RNA sequencing in neurology and neurosurgery
Single-cell ribonucleic acid sequencing (scRNA-seq) has emerged as a transformative technology in neurological and neurosurgical research,...
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Neurological Complications of Malaria
Purpose of ReviewTo discuss the neurological complications and pathophysiology of organ damage following malaria infection.
Recent Findings ... -
Long-term outcome of patients with neurological form of Wilson’s disease compliant to the de-coppering treatment
BackgroundA substantial proportion of Wilson’s disease (WD) patients exhibit residual neurological symptoms. Data on the prognostic value of initial...
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Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot–Marie–Tooth Disease
BackgroundTo identify genetic causes in 40 whole exome sequencing (WES)-negative Charcot–Marie–Tooth (CMT) families and provide a summary of the...
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A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders
Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between...
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PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes
BackgroundThe PACS gene family has been demonstrated to be related to intracellular vesicular trafficking. The phenotypic manifestations caused by...
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De-novo ATR-16 syndrome associated with inherited hemoglobin Evanston causing HbH phenotype: a rare occurrence
Abnormality of three α-globin genes, either deletion or point mutation results in symptomatic Hemoglobin H (HbH) phenotype. Most of such cases of...
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The role of Pcdh10 in neurological disease and cancer
BackgroundProtocadherin 10 (PCDH 10), a member of the superfamily of protocadherins, is a Ca2 + -dependent homophilic cell-cell adhesion molecule...
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Real-World Effectiveness of High-Dose Tafamidis on Neurologic Disease Progression in Mixed-Phenotype Variant Transthyretin Amyloid Cardiomyopathy
IntroductionTransthyretin amyloidosis (ATTR) is a progressive, heterogeneous rare disease manifesting as ATTR polyneuropathy (ATTR-PN), ATTR...
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The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects
BackgroundTBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a...
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Detection of Chikungunya Virus RNA in Cerebrospinal Fluid of Patients with Severe Neurological Disorders
Arboviruses are widespread etiological agents related to mild to severe diseases and could lead to death. In Brazil cases of Chikungunya (CHIKV) and...
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Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice
BackgroundDeoxyguanosine kinase (DGUOK) deficiency is one of the genetic causes of mitochondrial DNA depletion syndrome (MDDS) in humans, leading to...
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Phenotype-considered kinematically aligned total knee arthroplasty for windswept-deformity-associated osteoarthritis: surgical strategy and clinical outcomes
BackgroundWindswept deformity (WSD) in relation to advanced osteoarthritis (OA) presents a significant surgical challenge in total knee arthroplasty...
