1,527 articles
Autosomal spastic paraplegia type 30
Autosomal spastic paraplegia type 30 (SPG30, OMIM 610357) is a rare hereditary spastic paraplegia caused by KIF1A mutations at 2q37.3, inherited dominantly or recessively, with pure or complicated spastic paraplegia beginning in the first or second decade.
Autosomal spastic paraplegia type 58
Autosomal spastic paraplegia type 58 (SPG58, SPAX2, autosomal spastic ataxia type 2) is a rare hereditary spastic paraplegia caused by KIF1C mutations, combining lower limb spasticity with cerebellar ataxia, with mild dominant and severe recessive phenotypes.
Autosomal spastic paraplegia type 72
Autosomal spastic paraplegia type 72 (SPG72, SPG72A, OMIM 615625) is a rare pure hereditary spastic paraplegia caused by REEP2 mutations, with childhood onset spastic gait, hyperreflexia, and both dominant and recessive inheritance.
Awakenings
Awakenings is Penny Marshall's 1990 Columbia Pictures drama starring Robert De Niro and Robin Williams, adapted from Oliver Sacks's 1973 book about L-DOPA reviving catatonic encephalitis lethargica patients in 1969; three Oscar nominations, $52 million domestic gross.
Awakenings (book)
Awakenings is Oliver Sacks's 1973 nonfiction book (also Uyanışlar) about 20 postencephalitic parkinsonism patients at Mount Carmel hospital whose decades-long catatonia briefly lifted with L-DOPA in 1969; it won the 1974 Hawthornden Prize and inspired the 1990 film.
Away from Her
Away from Her is a 2006 Canadian drama, Sarah Polley's directorial debut, adapted from Alice Munro's "The Bear Came Over the Mountain," starring Julie Christie and Gordon Pinsent as a couple divided by Alzheimer's; it earned two Oscar nominations and seven Genies.
Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome (ARS), also called Axenfeld anomaly or Rieger syndrome, is a rare autosomal dominant anterior segment eye disorder caused by PITX2 or FOXC1 mutations, with glaucoma in about half of cases and dental, facial, and umbilical anomalies.
Bacterial encephalitis
Bacterial encephalitis (ICD-11 1D00.0) is rare bacterial infection-caused inflammation of brain tissue, mainly Listeria monocytogenes and tuberculosis; in-hospital mortality 12.9%, treated with urgent antibiotics.
Bacterial myelitis
Bacterial myelitis (ICD-11 1D02.0) is spinal cord inflammation caused by bacteria, commonly Mycoplasma pneumoniae, Mycobacterium tuberculosis, Treponema pallidum, or Brucella, causing paraparesis, sensory loss, and sphincter dysfunction.
Bainbridge-Ropers syndrome
Bainbridge-Ropers syndrome, or ASXL3-related disorder (OMIM 615485), is a rare autosomal dominant neurodevelopmental disorder from de novo truncating ASXL3 (18q12.1) variants, causing severe developmental delay, hypotonia, feeding difficulties, and distinctive facial features.
Balint syndrome
Balint syndrome (Balint-Holmes syndrome), first described by Rezső Bálint in 1909, is a rare visual disorder from bilateral parieto-occipital lesions, marked by simultanagnosia, optic ataxia, and oculomotor apraxia.
Ballism
Ballism (ballismus, hemiballism) is a rare hyperkinetic movement disorder of violent, flinging proximal limb movements, classically from contralateral subthalamic nucleus lesions, treated with dopamine blockers or tetrabenazine.
Baló concentric sclerosis
Baló concentric sclerosis (BCS), or concentric demyelination, is a rare multiple sclerosis variant with concentric ring-like white matter lesions of alternating myelinated and demyelinated tissue, described by József Baló in 1928, diagnosed by MRI, often monophasic.
Baraitser-Winter cerebrofrontofacial syndrome
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare genetic disorder marked by distinctive facial features, intellectual disability, and brain, eye, and other malformations, caused by ACTB or ACTG1 mutations.
Before I Go to Sleep (film)
Before I Go to Sleep is a 2014 psychological thriller directed by Rowan Joffé, adapted from S.J. Watson's bestselling amnesia novel, starring Nicole Kidman, Colin Firth, and Mark Strong; it grossed $3.2 million in the US and scored 37% on Rotten Tomatoes.
Behr syndrome
Behr syndrome (Behr complicated familial optic atrophy, OMIM 210000) is a genetically heterogeneous childhood-onset optic atrophy with ataxia, spasticity, neuropathy, and cognitive impairment; genes include C12orf65, OPA1, OPA3, C19orf12; treatment is supportive.
Benign fasciculation syndrome
Benign fasciculation syndrome (BFS): frequent harmless muscle twitching at rest without underlying disease, diagnosed by normal exam, EMG, and exclusion; long-term studies show no progression to ALS.
Benign focal seizures of adolescence
Benign focal seizures of adolescence (BFSA, adolescent benign focal crisis): rare idiopathic seizure-susceptibility condition peaking at 13-15 years, with one or 2-5 focal seizures within 36 hours, normal EEG and MRI, no recurrence, no treatment needed.
Benign hereditary chorea
Benign hereditary chorea is a rare, autosomal dominant movement disorder with childhood-onset, non-progressive chorea caused by NKX2-1 mutations, sometimes accompanied by lung and thyroid problems.
Benign lymphoepithelial lesion of lacrimal gland
Benign lymphoepithelial lesion of the lacrimal gland (BLEL, Mikulicz disease, ICD-11 9A10.2) is a rare IgG4-related inflammatory lesion causing painless bilateral lacrimal and salivary gland swelling.
Benign neoplasm of choroid
Benign neoplasm of choroid (ICD-11 2F36.0), chiefly the choroidal nevus, a common benign melanocytic eye tumor in about 5% of U.S. adults, with a low 1-in-8845 annual risk of transformation into choroidal melanoma.
Benign neoplasm of cranial nerves
Benign neoplasm of cranial nerves (ICD-11 2A02.3), mostly schwannomas of Schwann-cell origin; vestibular schwannoma is the commonest, managed by observation, radiosurgery, radiotherapy, or surgery.
Benign neoplasm of spinal cord
Benign neoplasm of spinal cord (ICD-11 2A02.4; ICD-10 D33.4): a noncancerous spinal cord tumor, usually schwannoma, meningioma, ependymoma, or hemangioblastoma, treated by microsurgical resection or radiosurgery.
Benign nocturnal alternating hemiplegia of childhood
Benign nocturnal alternating hemiplegia of childhood (BNAHC) is a rare neurologic disorder in which young children have sleep attacks of one-sided paralysis with normal development.
Benign paroxysmal positional vertigo
Benign positional paroxysmal vertigo (BPPV), also called benign paroxysmal positional vertigo, is an inner-ear disorder where displaced otoconia in the semicircular canals cause brief positional vertigo; diagnosed by Dix-Hallpike, treated with the Epley maneuver.
Benign paroxysmal tonic upgaze of childhood with ataxia
Benign paroxysmal tonic upgaze of childhood with ataxia (Ouvrier-Billson syndrome, ORPHA:1179, OMIM 168885) is a rare infantile paroxysmal movement disorder with sustained upward eye deviation, downbeating saccades, ataxia, and spontaneous resolution within 1-2 years.
Benign paroxysmal torticollis of infancy
Benign paroxysmal torticollis of infancy (BPT) is a rare, self-limiting paroxysmal dystonia causing recurrent head-tilt episodes in infants, first described by Snyder in 1969, linked to migraine and CACNA1A mutations, resolving by about age 5.
Benign recurrent meningitis
Benign recurrent meningitis, or Mollaret's meningitis (benign recurrent lymphocytic/aseptic meningitis), is a rare syndrome of self-limiting 2–7 day aseptic meningitis attacks with Mollaret's cells in CSF, often linked to HSV-2, recurring over years without sequelae.
Benign sleep myoclonus of infancy
Benign sleep myoclonus of infancy, or benign neonatal sleep myoclonus (ICD-11 7A85), is a nonepileptic disorder with rhythmic jerks only during sleep in newborns, stopping on arousal, with normal EEG and resolution by 6 months in 95%.
Bennet Omalu
Bennet Ifeakandu Omalu, Nigerian-American forensic neuropathologist born 1968, identified CTE in NFL player Mike Webster's brain in 2002, fought NFL denial, inspired the film Concussion, and was later criticized for overstating CTE risks.