Journal of the neurological sciences
-
Spinal and bulbar muscular atrophy (SBMA) is an adult form of X-linked motor neuron disease caused by an expansion of a CAG repeat sequence in the first exon of the androgen receptor (AR) gene. Nuclear accumulation of mutant AR with expanded polyglutamines in motor neurons is a major pathogenic mechanism. To characterize muscle involvement in SBMA the skeletal muscle biopsies of 8 SBMA patients and 3 female carriers were studied. ⋯ In all patients plasma CK levels were more elevated than what usually occurs in denervative diseases. Both neurogenic and myopathic changes were also observed in female carriers. Here we suggest that myopathic changes in SBMA muscle are not only related to denervation and that muscle satellite cells may have a role in the pathogenesis of muscle damage.
-
To evaluate the subjective sleep quality, the prevalence of daytime sleepiness and the risk of sleep-related upper airways obstruction in patients with genetically proven Facioscapulohumeral muscular dystrophy (FSHD). FSHD is an autosomal dominant myopathy, characterized by an early involvement of facial and scapular muscles with eventual spreading to pelvic and lower limb muscles. ⋯ Our data support the hypothesis that patients with FSHD have an impaired sleep quality, and that this impairment is directly related to the severity of the disease. A systematic polysomnographic evaluation of these patients will be necessary to confirm the presence of sleep disruption and to clarify its pathogenesis.
-
Charles Bonnet syndrome is characterised by the occurrence of complex visual hallucinations in the presence of normal cognition in elderly individuals. It commonly happens following conditions where there has been a profound loss of vision or interruption of visual input into the occipital cortex. It is important to distinguish this largely innocuous condition from psychiatric conditions that exist in the same age group. ⋯ The article details the various conditions where this phenomenon has been experienced; the theories that have been postulated for its aetiology and the treatment options. The variations of this case from the commonly observed scenarios are highlighted questioning previously held convictions as well as providing an insight into the widening spectrum of the phenomenon as more cases are described. The article hopes to raise awareness of this condition, which is much commoner than perceived by healthcare practitioners, as most patients in that age group are reluctant to be forthcoming with their symptoms for fear of being diagnosed with a psychiatric disorder.
-
Carbon monoxide (CO), a highly toxic gas produced by incomplete combustion of hydrocarbons, is a relatively common cause of human injury. Human toxicity is often overlooked because CO is tasteless and odorless and its clinical symptoms and signs are non specific. The brain and the heart may be severely affected after CO exposure with carboxyhemoglobin (COHb) levels exceeding 20%. ⋯ Diagnosis requires clinical acumen and a high index of suspicion, combined with epidemiological data, clinical examination, analysis of ambient air CO and patient COHb levels; also required are cardiology evaluation including ECG as well as neurological evaluation including brain imaging (CT and/or MRI, MR spectroscopy), and neuropsychological testing. Although immediate O(2) breathing is sometimes an adequate treatment, hyperbaric oxygen therapy (HBO) is favored. Subsequently, only symptomatic therapy is available for the long-term sequelae of CO poisoning.
-
Outcome after aSAH depends on several factors, including the severity of the initial event, perioperative medical management, surgical variables, and the incidence of complications. Cerebral vasospasm (CV) is ure to consistently respond to treatment, emphasizing the need for further research into the underlying mechanisms of SAH-induced cerebrovascular dysfunction. ⋯ Current management of this condition consists of maximal medical therapy, including triple H regimen and oral administration of calcium antagonists, followed by endovascular balloon angioplasty and/or injection of vasodilatory agents for refractory cases. As the precise pathophysiology of CV is further elucidated, the development of promising investigational therapies will follow.