Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report here a boy suffering from muscle cramps in the right upper extremity. At 32 days of age, he developed purulent meningitis followed by paresis of the right upper extremity. From infancy he had intermittent episodes myoclonus-like involving the right hand. Since he also had true epileptic seizures with loss of consciousness, ocular deviation, and vomiting at 6 and 8 years of age, he was treated with anti-epileptic drugs as therapy for focal motor seizures. At 6 years of age, these episodes increased in frequency. The cramps spread from the right hand to involve the entire upper extremity with pain. At the age of 10, he was referred to Hirosaki University Hospital and was admitted. Using closed circuit television with continuous EEG and EMG monitoring we observed during his episodes repeated EMG abnormalities consisting of continuous discharges of polyphasic motor unit potentials, but no epileptic EEG discharges. We diagnosed these episodes as muscle cramp. His muscle cramps were controlled by medication with muscle relaxants and Chinese medicines. This case illustrates that the differential diagnosis between muscle cramps and epileptic seizures is important for proper treatment.
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PMID:[Case report of muscle cramp versus focal epilepsy]. 1048 69

A postmortem case of an atypical form of dural graft associated Creutzfeldt-Jakob disease (CJD) is described. A 42 year old man developed progressive spastic paresis 163 months after a cadaveric dura mater graft. He presented with no myoclonus and very late occurrence of periodic synchronous discharges on EEG. The prion protein (PrP) gene was homozygous for methionine at the polymorphic codon 129. Neuropathological examination disclosed plaque-like PrP deposits with atypical distribution of synaptic PrP accumulations in the brain. This patient represents an atypical form of dural graft associated CJD characterised by unusual clinicopathological features.
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PMID:Atypical form of dural graft associated Creutzfeldt-Jakob disease: report of a postmortem case with review of the literature. 1130 72

Alexander's disease, a leukodystrophy characterized by Rosenthal fibers (RFs) in the brain, is categorized into three subtypes: infantile, juvenile, and adult. Although most are sporadic, occasional familial Alexander's disease cases have been reported for each subtype. Hereditary adult-onset Alexander's disease shows progressive spastic paresis, bulbar or pseudobulbar palsy, palatal myoclonus symptomatologically, and prominent atrophy of the medulla oblongata and upper spinal cord on magnetic resonance imaging. Recent identification of GFAP gene mutations in the sporadic infantile- and juvenile-onset Alexander's disease prompted us to examine the GFAP gene in two Japanese hereditary adult-onset Alexander's disease brothers with autopsy in one case. Both had spastic paresis without palatal myoclonus, and magnetic resonance imaging showed marked atrophy of the medulla oblongata and cervicothoracic cord. The autopsy showed severely involved shrunken pyramids, but scarce Rosenthal fibers (RFs). Moderate numbers of Rosenthal fibers (RFs) were observed in the stratum subcallosum and hippocampal fimbria. In both cases, we found a novel missense mutation of a G-to-T transition at nucleotide 841 in the GFAP gene that results in the substitution of arginine for leucine at amino acid residue 276 (R276L). This is the first report of identification of the causative mutation of the GFAP gene for neuropathologically proven hereditary adult-onset Alexander's disease, suggesting a common molecular mechanism underlies the three Alexander's disease subtypes.
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PMID:Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease. 1244 32

We report clinical and neuroimaging findings for three patients suffering from Alzheimer's disease (AD) with focal motor symptoms. These patients initially showed cognitive deficits and subsequently featured myoclonus and awkward movements in the unilateral upper limb while progressing to paresis. Paresis was noted in the unilateral upper limb. All patients held the unilateral arm flexed at the wrist and elbow, closely adducted to the body and the hand fisted and pronated. No signs of cerebellar ataxia, sensory disturbance or long tract signs were observed, nor any of the initial non-cognitive behavioural changes typical of frontotemporal dementia. EEGs of these patients showed marked slowing of basic activity without epileptic discharges. MRIs showed progressive brain atrophy in the contralateral frontoparietal lobes as well as the hippocampal formation. Cases 2 and 3 featured extensive long T2 lesions on MRI. 99mTc-HMPAO-SPECT revealed blood flow hypoperfusion in the corresponding regions. The cerebellum and brain stem showed neither morphological abnormalities nor blood flow hypoperfusion. On the basis of these clinical and neuroimaging observations, the focal motor symptoms were attributed to contralateral frontoparietal cortical atrophy with or without white matter lesion.
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PMID:Report of three cases of Alzheimer's disease with focal motor symptoms: clinical correlates of neuroimaging findings. 1260 27

We investigated the association between clinical and neurophysiological characteristics in patients with a clinical diagnosis of probable corticobasal degeneration (CBD), and searched for neurophysiological features supporting the diagnosis in life. Ten patients with clinically probable CBD underwent comprehensive neurological evaluation and brain MRI. Long latency reflexes (LLR), upper limb somatosensory (SEP) and motor evoked (MEP) potentials were recorded. The mini-mental state examination (MMSE), the phonemic verbal fluency test (PVFT) and the De Renzi ideomotor apraxia test were also performed. Polygraphic EEG was performed in the six patients with myoclonus. The SEP N30 frontal component was absent bilaterally in four patients, was absent on the left side in one, and had increased latency in other three. MEPs were abnormal in four patients (three had prolonged central motor conduction time, one of whom also had increased MEP threshold, and one had increased MEP threshold). All six patients with myoclonus had enhanced LLRs at rest, which were also of abnormally increased amplitude during motor activation; latencies were generally shorter than in classic cortical reflex myoclonus. On back-averaging, no EEG spikes time-locked to EMG activity were found in any myoclonus patient. Five patients were demented by MMSE, eight had ideomotor apraxia scores in the ideomotor apraxia range and five had defective verbal fluency. Brain MRI revealed asymmetric cortical atrophy in all patients, particularly evident frontoparietally. Neurophysiological techniques, particularly LLR, can assist CBD diagnosis especially in patients with myoclonus. Patients with evident parkinsonism had greater SEP N30 (frontal) abnormalities, while most patients with marked paresis had slower MEP times.
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PMID:Neurophysiological features in relation to clinical signs in clinically diagnosed corticobasal degeneration. 1275 52

Head injury can cause extrapyramidal movement disorders such as tremors, parkinsonism, dystonia, chorea, myoclonus, and tics. Pure adventitious movements are rare, but combinations with paresis, spasticity, apraxia, or ataxia occur in approximately 20% of cases of severe head injury, in many cases appearing or evolving in the months following the injury. Tremors may improve in time but many of the other syndromes tend to persist. Reversible causes such as medications or metabolic derangements are occasionally identifiable. Some of these adventitious movements can be improved using neuroactive drugs, botulinum toxin injections, or stereotactic brain surgery.
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PMID:Movement disorders after head injury: diagnosis and management. 1526 58

Here, we present a male infant with clinical signs of typical Leigh syndrome. The first symptom, myoclonus was presented already on the 5th day of life; at 7 months of age limb convulsions and cerebral paresis with hypotonia were developed. At the age of 11 months, MRI verified increased signal intensity in the entire mesencephalon and medulla oblongata; while gray matter proton spectroscopy revealed presence of lactate increase in the brain. At age of 17 months, the child died in cardiorespiratory arrest. After autopsy, the diagnosis of Leigh syndrome was established; using DNA isolated from skeletal muscle and liver, heteroplasmic (>50%) mitochondrial 11777C>A was detected in the fourth subunit of NADH dehydrogenase enzyme (MTND4) encoding gene, which causes Arg --> Ser replacement. The mutation was also detected in low copy number in blood of mother. Albeit this mutation type is well recognized as a typical mtDNA mutation, according the reports available on the PubMed, this mutation was described only in four patients with wide phenotypic variations; here, we reviewed the characteristic clinical features of them. Taken together, the earliest onset of symptoms, the nature of the first presentation signs, the most rapid progression, the character of minor additional symptoms, and the early fatal outcome differentiate the phenotypic variant of the proband presented here from cases reported so far by others.
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PMID:Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees. 2050 85

Botulinum toxin (Botox) is an exotoxin produced from Clostridium botulinum. It works by blocking the release of acetylcholine from the cholinergic nerve end plates leading to inactivity of the muscles or glands innervated. Botox is best known for its beneficial role in facial aesthetics but recent literature has highlighted its usage in multiple non-cosmetic medical and surgical conditions. This article reviews the current evidence pertaining to Botox use in the head and neck. A literature review was conducted using The Cochrane Controlled Trials Register, Medline and EMBASE databases limited to English Language articles published from 1980 to 2012. The findings suggest that there is level 1 evidence supporting the efficacy of Botox in the treatment of spasmodic dysphonia, essential voice tremor, headache, cervical dystonia, masticatory myalgia, sialorrhoea, temporomandibular joint disorders, bruxism, blepharospasm, hemifacial spasm and rhinitis. For chronic neck pain there is level 1 evidence to show that Botox is ineffective. Level 2 evidence exists for vocal tics, trigeminal neuralgia, dysphagia and post-laryngectomy oesophageal speech. For stuttering, 'first bite syndrome', facial nerve paresis, Frey's syndrome, oromandibular dystonia and palatal/stapedial myoclonus the evidence is level 4. Thus, the literature highlights a therapeutic role for Botox in a wide range of non-cosmetic conditions pertaining to the head and neck (mainly level 1 evidence). With ongoing research, the spectrum of clinical applications and number of people receiving Botox will no doubt increase. Botox appears to justify its title as 'the poison that heals'.
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PMID:An evidence-based review of botulinum toxin (Botox) applications in non-cosmetic head and neck conditions. 2347 31

Less than 10% of Alzheimer's disease (AD) cases are familial. Presenilin-1 (PSEN1) mutations are the most frequent aetiology and may be associated to atypical neurological manifestations. We report the case of a 27-year-old right-handed man, ensuing with mild cognitive impairment, motor discoordination and axial myoclonus after a parachute accident. At age 32 he was referred to our neurology clinic, presenting cognitive impairment, cerebellar syndrome, axial myoclonus and hypomimia, without other signs of parkinsonism. Because of absence of family history, he was worked up along the line of spinal ataxic disorders. Later, he developed pseudobulbar affect, cognitive deterioration, right upper limb paresis and spastic paraparesis. Subsequent investigation identified a PSEN1 P117L mutation and the diagnosis of autosomal dominant AD was made. This case illustrates the diagnostic challenge imposed by atypical presentation of de novo PSEN1 mutation, leading to unnecessary investigation. Genetic study might be essential for defining the diagnosis.
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PMID:Difficult case of a rare form of familial Alzheimer's disease with PSEN1 P117L mutation. 3056 37

Functional movement disorders (FMD) are proposed to reflect a specific problem with voluntary control of movement, despite normal intent to move and an intact neural capacity for movement. In many cases, a positive diagnosis of FMD can be established on clinical grounds. However, the diagnosis remains challenging in certain scenarios, and there is a need for predictors of treatment response and long-term prognosis.In this context, we performed a systematic review of biomarkers in FMD. Eighty-six studies met our predefined criteria and were included.We found fairly reliable electroencephalography and electromyography-based diagnostic biomarkers for functional myoclonus and tremor. Promising biomarkers have also been described for functional paresis, gait and balance disorders. In contrast, there is still a lack of diagnostic biomarkers of functional dystonia and tics, where clinical diagnosis is often also more challenging. Importantly, many promising findings focus on pathophysiology and reflect group-level comparisons, but cannot differentiate on an individual basis. Some biomarkers also require access to time-consuming and resource-consuming techniques such as functional MRI.In conclusion, there are important gaps in diagnostic biomarkers in FMD in the areas of most clinical uncertainty. There is also is a lack of treatment response and prognostic biomarkers to aid in the selection of patients who would benefit from rehabilitation and other forms of treatment.
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PMID:Biomarkers in functional movement disorders: a systematic review. 3308 21


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