A young man from Pakistan had his first-ever tonic-clonic seizure while playing cricket. Since age 12 years, he had reported involuntary jerks and tremulousness, sometimes with falls, particularly with bright lights. Family history included a brother who developed seizures with myoclonus in his mid-20s and parental consanguinity.
View Article and Find Full Text PDFDepression and apathy are associated with decreased functional capacity in Huntington's disease (HD) but frequency of depression and apathy in HD is largely unknown. Systematic literature searching was conducted across 21 databases until 30 June 2021. Inclusion criteria was limited to clinician-rated assessments of depression and apathy and adult-onset HD.
View Article and Find Full Text PDFIntroduction: Exercise and physical activity have been shown to improve cognition for people living with mild cognitive impairment (MCI). There is strong evidence for the benefits of aerobic exercise and medium evidence for participating in regular strength training for people with MCI. However, people living with MCI fall two times as often as those without cognitive impairment and the evidence is currently unknown as to whether balance training for people with MCI is beneficial, as has been demonstrated for older people without cognitive impairment.
View Article and Find Full Text PDFIntroduction: Preclinical, clinical and epidemiological studies support the hypothesis that aberrant systemic metabolism of amyloid beta (Aβ) in the peripheral circulation is causally related to the development of Alzheimer's disease (AD). Specifically, recent studies suggest that increased plasma concentrations of lipoprotein-Aβ compromise the brain microvasculature, resulting in extravasation and retention of the lipoprotein-Aβ moiety. The latter results in an inflammatory response and neurodegeneration ensues.
View Article and Find Full Text PDFA 47-year-old woman presented with six episodes of horizontal binocular double vision over a 2-year period. CT imaging was significant for extensive dural calcification in the spine and calcification of the skull base, likely involving Dorello's canal. Biochemical testing revealed a persistently low alkaline phosphatase level.
View Article and Find Full Text PDFAust N Z J Psychiatry
September 2019
Background: Retinal imaging may serve as an alternative approach to monitor brain pathology in Alzheimer's disease (AD). In this study, we investigated the association between retinal vascular and structural changes and cerebral amyloid-β (Aβ) plaque load in an elderly cohort.
Methods: We studied a total of 101 participants, including 73 elderly subjects (79 ± 5 years, 22 male) with no clinical diagnosis of AD but reporting some subjective memory change and an additional 28 subjects (70 ± 9 years, 16 male) with clinically established AD.
Papillomaviruses are epitheliotropic, circular, double-stranded DNA viruses within the family Papillomaviridae that are associated with benign and malignant tumors in humans and animals. We report the complete genome sequence of canine papillomavirus type 16 identified within multiple pigmented cutaneous plaques and squamous cell carcinoma from an intact female Basenji dog.
View Article and Find Full Text PDFWe report a series of patients with a clinical syndrome characterised by the explosive onset in adulthood of recurrent focal seizures of frontotemporal onset and features suggestive of autoimmune encephalitis. We propose that this presentation of "autoimmune adult onset focal epilepsy and encephalitis" is a recognisable clinical syndrome, and provide evidence it may be associated with heterogeneous immunological targets. Between 2008 and 2011 we encountered six patients with new-onset epilepsy in whom we suspected an autoimmune aetiology.
View Article and Find Full Text PDFObjective: To determine the risk factors associated with dementia with Lewy bodies (DLB).
Methods: We identified 147 subjects with DLB and sampled 2 sex- and age-matched cognitively normal control subjects for each case. We also identified an unmatched comparison group of 236 subjects with Alzheimer disease (AD).
Gene association with HLA suggests involvement of immune mediated mechanisms in the pathogenesis of Parkinson's disease (PD). Only a small number of studies have found differences between circulating leukocyte populations in PD patients compared to controls, with conflicting results. To clarify whether there is a circulating leukocyte PD phenotype, we assessed the numbers of T, B and natural killer cells, and monocytes and found a small reduction (15-25%) in CD4+ T and CD19+ B cells in PD.
View Article and Find Full Text PDFObjective: To report the clinical, electroencephalographic, and neuroradiologic findings in a kindred with a novel insertion in the prion protein gene, PRNP.
Design: Clinical description of a kindred.
Setting: Mayo Clinic Alzheimer Disease Research Center (Rochester, Minnesota).
Psychiatry (Edgmont)
May 2010
Objective: To investigate the safety of rechallenge with lamotrigine after an initial rash in patients with refractory bipolar depression.
Design: 1) Prospective, open-label case series in a private practice setting. Patients who developed an initial rash on lamotrigine and were refractory to other treatments were offered rechallenge with the drug using very-low-dose titration (5mg every other day or daily for 14 days, then raised every 14 days by daily-dose increments of 5mg; after 25mg/day the titration proceeded according to the manufacturer's guidelines); and 2) A meta-analysis of prior reports of rechallenge with lamotrigine was conducted.
Non-motor manifestations of Parkinson disease (PD) are common and some may actually antedate motor dysfunction. Extrapyramidal signs in PD are tightly linked to striatonigral dopaminergic denervation associated with neuronal loss and Lewy bodies in the residual neurons of the substantia nigra. Lewy bodies composed of abnormal alpha-synuclein are the histologic hallmark of PD, and their presence beyond midbrain dopaminergic neurons is considered to be the pathologic substrate of many, if not all, of the non-motor manifestations of PD.
View Article and Find Full Text PDFObjective: To assess the incidence, severity, and spectrum of neurologic toxic effects associated with administration of amiodarone hydrochloride.
Design: Retrospective medical record analysis of cardiac patients treated with amiodarone between January 1, 1996, and July 31, 2008.
Setting: Residents of Olmsted County, Minnesota, treated at the Mayo Clinic.
The pathogenesis of idiopathic Parkinson's disease is unknown, but nigral degeneration and depigmentation are associated with microglial inflammation and anti-inflammatory medications appear to protect against the disease. The possibility that humoral immunity may play a role in initiating or regulating the inflammation has been suggested by experimental studies triggering dopamine cell death using a variety of transfer strategies and the observation of CD8+ T lymphocytes and complement in the nigra in Parkinson's disease. We analysed the association between degeneration and humoral immune markers in brain tissue of patients with idiopathic (n = 13) or genetic (n = 2 with alpha-synuclein and n = 1 with parkin mutations) Parkinson's disease and controls without neurological disease (n = 12) to determine the humoral immune involvement in Parkinson's disease.
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