Wilson disease (WD) is an autosomal recessive disorder, characterized by excessive deposition of copper in various parts of the body, mainly in the liver and brain. It is caused by mutations in ATP7B . We report here the genetic analysis of 102 WD families from a south Indian population. Thirty-six different ATP7B mutations, including 13 novel ones [p.Ala58fs*19, p.Lys74fs*9, p.Gln281*, p.Pro350fs*12, p.Ser481*, p.Leu735Arg, p.Val752Gly, p.Asn812fs*2, p.Val845Ala, p.His889Pro, p.Ile1184fs*1, p.Val1307Glu and p.Ala1339Pro], were identified in 76/102 families. Interestingly, the mutation analysis of affected individuals in two families identified two different homozygous mutations in each family, and thus each affected individual from these families harbored two mutations in each ATP7B allele. Of 36 mutations, 28 were missense, thus making them the most prevalent mutations identified in the present study. Nonsense, insertion and deletion represented 3/36, 2/36 and 3/36 mutations, respectively. The haplotype analysis suggested founder effects for all the 14 recurrent mutations. Our study thus expands the mutational landscape of ATP7B with a total number of 758 mutations. The mutations identified during the present study will facilitate carrier and pre-symptomatic detection, and prenatal genetic diagnosis in affected families.
Vomiting and hiccups can be due to peripheral or central causes. Neurological diseases causing vomiting and hiccups are due to lesions of medulla involving area postrema and nucleus tractus solitarius. Neuromyelitis optica (NMO) is one such disease which involves these structures. However refractory vomiting and hiccups as the presenting symptom of NMO is unusual. Here we report a patient with NMO in whom refractory vomiting and hiccups were the sole manifestation of the first attack. Diagnosis can be missed at this stage leading to delay in treatment and further complications. This case demonstrates the importance of considering NMO in any patient presenting with refractory vomiting and hiccups and with local and metabolic causes ruled out and linear medullary lesion on magnetic resonance imaging may indicate the diagnosis even when the classical clinical criteria are not met. Anti NMO antibody testing should be done and if positive appropriate treatment should be initiated to prevent further neurological damage.
Narcolepsy is a sleep disorder characterized by excessive daytime sleepiness. It can be either primary or symptomatic due to other neurologic disorders. Neuromyelitis optica (NMO) is an inflammatory demyelinating disorder in which symptomatic narcolepsy is being described as one of the core clinical features. Here, we report a patient with NMO who presented with narcolepsy. Signal changes on magnetic resonance imaging in hypothalamus and other periventricular regions of high aquaporin-4 expression should prompt considering NMO as diagnosis. Serum anti-aquaporin-4 IgG antibody testing should be done in such cases, and appropriate treatment should be initiated to prevent further neurological worsening and relapses.
We have highlighted herein an interesting, hitherto unusual, imaging feature in Wilson's disease, a rare but treatable autosomal recessive disorder of copper metabolism.A 16-year-old boy presented with progressive dysarthria, dysphagia, drooling, and declining scholastic performance of 1-year duration. Examination revealed bilateral dense Kayser-Fleischer rings, generalised rigidity, dystonia of the extremities, and short shuffling gait. Laboratory findings of reduced serum ceruloplasmin (3 mg/dl; N: 15-35), total copper (28 μg/dl; N: 75-160), and elevated 24-hour urinary copper (200 μg/24 hours; N: ≤70 mcg/24 hour) confirmed the diagnosis of Wilson's disease. He received de-coppering therapy with d-penicillamine and zinc sulphate as well as trihexyphenidyl and had symptomatic improvement.
This chapter describes how a stroke or ‘brain attack' occurs when blood circulation to the brain fails. Although first recognized 2400 years ago by Hippocrates, the father of medicine, advances in treatment are made only in the last few decades. After a stroke, 8 out of 10 patients develop paralysis on the side of body opposite the side of brain damaged. There are other symptoms to look for such as drooping of face to one side, slurred or confused speech, sudden visual disturbance, sudden giddiness and imbalance or sudden severe headache. Incidence of stoke increases with age and elderly people are more likely to have more severe stroke. In addition, elderly people will have multiple comorbidities which make management more difficult. After a disabling stroke, easing back to life requires a positive attitude to overcome difficulties. A physiotherapist can help restore the strength and reduce stiffness of muscles. Regular follow up with a physician or neurologist, taking medicines as prescribed is important to improve the outcome and prevent the recurrence of stroke.
Control of motor function—our activities like walking, lifting an object, writing, etc.—is accomplished through integrated and coordinated action of motor neurons. Motor neurons can be classified into two broad categories: upper motor neurons and lower motor neurons. Upper motor neurons have cell bodies in the motor cortex of brain and carry the impulses from cortex to spinal cord segment. Cell bodies of lower motor neurons are located in the anterior horn of spinal cord. Axons of lower motor neuron end in neuromuscular junction, and excitation of muscle fibres leads contraction of muscle. Different types of receptors carry different sensations like touch, pain, position, and vibration through sensory nerve fibres. Fibers mediating fine touch and proprioception ascend in the dorsal columns to the medulla, where they synapse in the gracile and cuneate nuclei. This chapter explores the neurobiology of sensory motor systems and the internal environment.
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