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Important medical research and remarkable case reports worth knowing.

Selected from high-relevance medical literature published in the last 14 days.

AllClinical ResearchCase Reports
FeaturedCase ReportNeurology

Clinicopathologic Evaluation of Amyloid Clearance in Alzheimer Disease.

JAMAOct 13, 2026Open access

A man in his 50s with mild cognitive impairment and the Alzheimer disease risk-associated p.R47H TREM2 variant received 30 doses of aducanumab (cumulative dose 280 mg/kg) over 4.5 years in a clinical trial.

Clinical pearl

In this case, downstream tau pathology and MRI-measured atrophy differed by regional residual amyloid burden; amyloid clearance was not uniform across cortical regions.

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Also worth knowing

Case ReportMedical GeneticsOpen access

Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation.

A Spanish female patient presented with macrocephaly, global developmental delay, and leukoencephalopathy. Whole-exome sequencing identified a novel de novo heterozygous FAM50A variant, c.905 A > T (p.His302Leu).

Neurol SciOct 24, 2026Read case
Case ReportNeurology

Intermittent Maple Syrup Urine Disease Presenting With Chronic Demyelinating Polyneuropathy: A Genetically Confirmed DBT-Related Case.

A female patient with intermittent maple syrup urine disease (MSUD), genetically confirmed by compound heterozygous pathogenic DBT variants, had recurrent ataxic episodes from early childhood.

J Peripher Nerv SystOct 23, 2026Read case
Case ReportNeurologyOpen access

Neuronal intermediate filament neurologic autoimmunity in a patient with Merkel cell carcinoma receiving pembrolizumab.

A 55-year-old woman with recurrent stage IIIA Merkel cell carcinoma developed vertigo, gait instability, dysarthria, and persistent right hemifacial and cervical spasms after her second pembrolizumab dose.

Neurol SciOct 23, 2026Read case
Case ReportNeurologyOpen access

Spontaneous regression of post-traumatic syringomyelia: longitudinal mr imaging demonstrating a dynamic disease course.

A 69-year-old patient with post-traumatic cervicothoracic syringomyelia presented with occipital headaches, dizziness, and subjective upper-extremity weakness.

Spinal Cord Ser CasesOct 23, 2026Read case
Case ReportNeurologyOpen access

Hemi-see-saw nystagmus with superimposed pendular oculopalatal tremor: case report and systematic review.

A 30-year-old man with a pontomedullary arteriovenous malformation presented with pendular hemi-see-saw nystagmus, right one-and-a-half syndrome, gaze-evoked nystagmus, ocular tilt reaction, incomplete Horner syndrome…

J NeurolOct 13, 2026Read case
Case ReportNeurology

Tuberculosis-Associated Longitudinally Extensive Transverse Myelitis.

A 51-year-old man with a year of chronic non-productive cough and about 20 days of fever and headache presented with encephalopathy but no focal neurological deficits.

Am J Case RepOct 22, 2026Read case
Case ReportPhysical Medicine & Rehabilitation

Seated Modified Liuzijue Training for Rehabilitation of a Patient with Respiratory Impairment During the Recovery Phase of Stroke: A Case Report.

A patient with respiratory impairment during stroke recovery also had motor dysfunction and balance limitations that made the traditional standing Liuzijue protocol unsuitable.

J Vis ExpOct 21, 2026Read case
Case ReportNeurologyOpen access

Co-existence of CLCN1 and DNM2 variants in a phenotype overlapping myotonia and myopathy.

An Iranian family was evaluated for a phenotype combining severe myotonia and myopathic features. The index patient had clinical and electrical myotonia, with myopathic changes on electromyography.

Mol Biol RepOct 17, 2026Read case
Case ReportNeurology

Child Neurology: Neonatal Management of Tyrosine Hydroxylase Deficiency: How Early Is Early Enough?

Two preterm neonates from unrelated families with a known family history of tyrosine hydroxylase deficiency were diagnosed early. Both began levodopa/carbidopa treatment during the neonatal period.

NeurologyOct 20, 2026Read case
Case ReportNeurologyOpen access

A novel de novo variant of CDKL5 in an Iranian child with infantile-onset refractory epilepsy.

An Iranian girl presented with developmental delay, hypotonia, and refractory seizures. Whole-exome sequencing identified a de novo CDKL5 frameshift variant, c.1037_1038delTCinsCAGATCTAA (p.Ile346Thrfs*14), which Sanger…

Mol Biol RepOct 16, 2026Read case
Case ReportEmergency MedicineOpen access

Seizures Secondary to Aconitum Plant Poisoning: a case report.

A 53-year-old man developed ventricular tachycardia progressing to ventricular fibrillation and cardiac arrest after drinking homemade Aconitum kusnezoffii-infused liquor.

J Med Case RepOct 16, 2026Read case

Showing 12 of 25 publications that cleared our clinical screen in the last 14 days.

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