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1 Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.The autosomal dominant cerebellar ataxias (ADCA) comprise a heterogeneous group of neurologic disorders characterized by degeneration of the cerebellum, spinal cord, and brainstem. Genetic analysis has revealed two loci, SCA1 on chromosome 6p, and SCA2 on chromosome 12q, responsible for some ADCA. W...Retinal Degeneration; Cerebellar Ataxia; Genetic Analysis1994-08
2 Idiopathic intracranial hypertension. Relationship to depression, anxiety, and quality of lifeOBJECTIVE: To explore the incidence of depression and anxiety and to measure quality of life in women with idiopathic intracranial hypertension (IIH), a matched group cross-sectional study was conducted. Women with IIH (n = 28) were compared with control groups of weight- and age-matched women not d...Intracranial Hypertension; Depression; Anxiety; Quality of Life2000-01-25
3 Pseudotumor cerebri and pregnancy.Pseudotumor cerebri (PTC) is most commonly seen in obese women of reproductive age. We studied 109 women with PTC between ages 16 and 44 years. In 11, PTC started during pregnancy. Thirteen women with previous diagnosis of PTC, including two of the aforementioned 11, had an additional 17 documented ...Pregnancy Complications; Pseudotumor Cerebri; Vision disorders; Headache; Intracranial Pressure1984-06
4 Terson syndrome: CT evaluation in 12 patients.PURPOSE: Terson syndrome may be overlooked in the acute setting and often requires ophthalmologic intervention to prevent long-term visual loss. In this syndrome, vitreous or retinal hemorrhage results from an abrupt rise in intracranial pressure, leading to retinal venous hypertension and intraocul...Retinal Hemorrhage; Visual Acuity; Vitreous Hemorrhage1998-04
5 Selective MR imaging approach for evaluation of patients with Horner's syndrome.PURPOSE: To assess the usefulness of MR in the evaluation of patients with Horner's syndrome. PATIENTS AND METHODS: We prospectively performed MR imaging in 33 patients with Horner's syndrome (13 preganglionic and 20 postganglionic) using a protocol specifically designed for pre- and postganglionic ...Horner Syndrome; Magnetic Resonance Imaging; Epidemiology1992-01
6 Justifying reimbursement for Alzheimers diagnostics and treatments: Seeking alignment on evidenceThe increasing cost of health care combined with expensive new drugs and diagnostics is leading to more frequent gaps between regulatory and reimbursement approval decisions. As a result, persons with Alzheimer's disease may have difficulty accessing the benefits of medical advances. In contrast to ...2014-01-01
7 Compressive optic neuropathy caused by renal osteodystrophy. Case report.Compressive optic neuropathy with acute or chronic vision loss has been associated with various skull base tumors, aneurysms, Graves disease, trauma, and, less commonly, fibrous dysplasia and osteopetrosis. The Author's present a case of acute visual deterioration in a 25-year-old woman who had mass...Optic Neuropathy; Optic Nerve Decompression; Renal Osteodystrophy2001-10
8 Microstructural thalamic changes in schizophrenia: a combined anatomic and diffusion weighted magnetic resonance imaging studyObjective: Several magnetic resonance imaging (MRI) and postmortem studies have supported the role of the thalamus in the pathophysiology of schizophrenia. Interestingly, a recent small diffusion weighted imaging (DWI) study showed abnormal thalamic microstructure in patients with schizophrenia. The...2008-01-01
9 Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 genePURPOSE: A 5-bp deletion in ELOVL4, a photoreceptor-specific gene, has been associated with autosomal dominant (ad) macular dystrophy phenotypes in five related families, in which phenotypes range from Stargardt-like macular dystrophy (STGD3; Mendelian Inheritance in Man 600110) to pattern dystrophy...Linkage (Genetics); Middle Aged; Phenotype2001
10 Early pathologic findings and long-term improvement in anti-Ma2-associated encephalitis.A 67-year-old man sequentially developed anti-Ma2-associated paraneoplastic encephalitis (PNE) and contralateral herpes simplex encephalitis (HSE). Brain biopsy 1 month before HSE revealed extensive infiltrates of T cells, B cells, and plasma cells. Most T cells expressed the cytotoxic granule-assoc...Paraneoplastic neurologic disorders; Encephalitis; Neoplasm;Herpes Simplex2006-07-11
11 Anti-interleukin-6 antibodies inhibit herpes simplex virus reactivation.Herpes simplex viruses (HSVs) infect epithelial cells, become localized in neurons, and can reactivate in response to a variety of stimuli, including ultraviolet light and hyperthermia. The sequence of gene activation during viral replication is known, but the molecular linkage between exogenous sti...Mice, Inbred BALB C; Tumor Necrosis Factor-alpha; Virus Activation1997
12 Correlation between detection of herpes simplex virus in oral secretions by PCR and susceptibility to experimental UV radiation-induced herpes labialis.We examined the oral secretions of 25 patients for herpes simplex virus (HSV) at the time of and following experimental UV radiation (UVR). HSV was detected in one or more oral secretion specimens in 5 of 12 (42%) cases by cell culture and in 8 of 12 (67%) cases by PCR. On the day of UVR, HSV was de...Polymerase Chain Reaction; Ultraviolet Rays; Simplexvirus1994
13 CT and hemifacial spasm.Forty-six patients with typical hemifacial spasm had CT. Thirty-eight (83%) were abnormal, including two with surgically documented tumors. Thirty-six had a characteristic dolichoectatic vertebrobasilar artery, with the convexity pointing to the side of the spasm in 92% of the scans. This study sugg...Hemifacial spasms; Tumors; Dolichoectiatic vertebrobasilar artery1988-07
14 Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblingsPURPOSE: Single-copy variants of the autosomal recessive Stargardt disease (STGD1) gene ABCR (ABCA4) have been shown to confer enhanced susceptibility to age-related macular degeneration (AMD). To investigate the role of ABCR alleles in AMD further, genotype-phenotype analysis was performed on sibli...DNA Mutational Analysis; Nuclear Family; Phenotype2002
15 Vitamin A in the cerebrospinal fluid of patients with and without idiopathic intracranial hypertensionWe quantified vitamin A in the cerebrospinal fluid of patients with idiopathic intracranial hypertension, elevated intracranial pressure of other causes and normal intracranial pressure. Vitamin A could be detected by high-pressure liquid chromatography in most of the specimens. There was a signific...Chromatography, High Pressure Liquid; Headache2002-11
16 Lifestyle intervention for pre-diabetic neuropathy.OBJECTIVE: The purpose of this study was to evaluate intraepidermal nerve fiber density (IENFD) as a sensitive measure of neuropathy change in patients with neuropathy associated with impaired glucose tolerance (IGT) receiving lifestyle intervention based on that used in the Diabetes Prevention Prog...Aged; Biopsy; Blood Pressure; Body Mass Index; Cholesterol; Diabetic Diet2006-06-29
17 Serum vitamin A concentration is elevated in idiopathic intracranial hypertension.OBJECTIVE: The primary purpose was to investigate whether serum vitamin A concentration is associated with idiopathic intracranial hypertension (IIH). The secondary aim was to obtain pilot data regarding the amount of vitamin A ingested by patients and controls. BACKGROUND: Vitamin A is an attractiv...Vitamin A; Retinol; Idiopathic intracranial hypertension; Chromatography2007-02-01
18 Microvascular complications of impaired glucose tolerance.Impaired glucose tolerance (IGT) serves as a marker for the state of insulin resistance and predicts both large- and small-vessel vascular complications, independent of a patient's progression to diabetes. Patients with IGT are at significantly increased risk for death and morbidity due to myocardia...Microcirculation; Humans2003-12-01
19 Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract that is expanded in SCA7 patients. We have determined expansions in 73 individuals from 17 SCA7 kindreds and compared them with repeat lengths of 180 unaffected individuals. Subjects with abnormal expansions co...Genetics; Biosynthesis; SCA7 Gene1998-03-07
20 Photophobia in a blind patient: An alternate visual pathway. Case report.Photophobia is a common neurological and ophthalmological symptom that has been associated with a growing number of neurosurgical conditions, especially compressive lesions. The exact signaling pathways and neurophysiological features of the disorder are not well understood; however, data from multi...Photophobia, Blindness, Signaling Pathway, Pretectal Nuclei, Trigeminal Pathway2006-12-14
21 Cranial magnetic resonance imaging in eclampsia.Although the precise neuropathologic basis for eclamptic convulsions remains unclear, intracranial hemorrhage is frequently associated with fatal cases. Magnetic resonance imaging (MRI) is a recently developed neuroimaging technique that appears superior to other processes for defining intracranial ...Eclampsia; Brain Edema; Cranial Magnetic Resonance Imaging1987-09
22 Prognosis of Patients with EpilepsyWritten primarily for the physician who is responsible for the treatment of epileptic patients and the clinical investigator interested in the basic mechanisms underlying this disorder. The book also addresses itself to psychologists interested in the study of mind-brain relationships. Factors relat...epilepsy; epileptic patients; mind-brain relationships1968
23 Early pathologic findings and long-term improvement in anti-Ma2-associated encephalitis.A 67-year-old man sequentially developed anti-Ma2-associated paraneoplastic encephalitis (PNE) and contralateral herpes simplex encephalitis (HSE). Brain biopsy 1 month before HSE revealed extensive infiltrates of T cells, B cells, and plasma cells. Most T cells expressed the cytotoxic granule-assoc...Paraneoplastic neurologic disorders; Encephalitis; Neoplasm;Herpes Simplex2006-07-11
24 Not so benign intracranial hypertension.Despite many controversies, intracranial hypertension due to use of doxycycline does occur. Practitioners prescribing the tetracyclic antibiotics should be aware of the syndrome of increased intracranial pressure, and pay particular attention to the ocular fundus for papilloedema. Appropriate referr...Venous Occusion; Venous Hypertension; Tetracycline, Doxycycline; Minocycline2003-03-22
25 Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis.A four-generation pedigree exhibiting early-onset autosomal dominant Alzheimer disease (AD) with spastic paraplegia, dystonia, and dysarthria due to a novel 6-nucleotide insertional mutation in exon 3 of the presenilin 1 gene (PS1) is described. Serial examinations, PET scans, and autopsy revealed t...Aged, 80 and over; Membrane Proteins; Neuropsychological Tests2004-05-25
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