Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neurological disorders associated with glutamic acid decarboxylase (GAD) antibodies are rare pleomorphic diseases of uncertain cause, of which stiff-person syndrome (SPS) is the best-known. Here, we described nine consecutive cases of neurological disorders associated with anti-GAD, including nine patients with SPS and three cases with cerebellar ataxia. Additionally, four had hypothyroidism, three epilepsy, two diabetes mellitus and two axial myoclonus.
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PMID:Neurological disorders associated with glutamic acid decarboxylase antibodies: a Brazilian series. 2299 Jul 19

Symptoms in patients with defects in amino acid catabolism and the urea cycle usually develop because of intoxication of accumulating metabolites. The cumulative prevalence of these disorders is considerable (at least>1:2000 newborns). Timely and correct intervention during the initial presentation and during later episodes is most important. Evaluation of metabolic parameters should be performed on an emergency basis in every patient with symptoms of unexplained metabolic crisis, intoxication, and/or unexplained encephalopathy. A substantial number of patients develop acute encephalopathy or chronic and fluctuating progressive neurological disease. The so-called cerebral organic acid disorders present with (progressive) neurological symptoms: ataxia, myoclonus, extrapyramidal symptoms, and "metabolic stroke." Important diagnostic clues, such as white matter abnormalities, cortical or cerebellar atrophy, and injury of the basal ganglia can be derived from cranial magnetic resonance imaging (MRI). Long-term neurological disease is common, particularly in untreated patients, and the manifestations are varied, the most frequent being (1) mental defect, (2) epilepsy, and (3) movement disorders. Successful treatment strategies are becoming increasingly available. They mostly require an experienced interdisciplinary team including a neuropediatrician and/or later on a neurologist.
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PMID:Defects in amino acid catabolism and the urea cycle. 2362 99

Antibodies directed against glutamic acid decarboxylase (GAD) are present in many patients with stiff person syndrome and increasingly found in patients with other symptoms indicative of central nervous system (CNS) dysfunction, such as ataxia. The classic clinical features of stiff person syndrome include muscular stiffness with superimposed painful muscular spasms. Gait is often impaired. Other CNS disorders associated with GAD antibodies include progressive encephalomyelitis with rigidity and myoclonus (PERM), limbic encephalitis, and even epilepsy. Glutamic acid decarboxylase is the rate-limiting enzyme in the production of gamma-aminobutyric acid (GABA), the primary inhibitory neurotransmitter. Presumably, antibodies directed against GAD impair GABA production, but the precise pathogenic mechanism of GAD-antibody-related neurologic disorders is uncertain. Many patients respond to treatment with immunomodulating therapy. Symptomatic treatment with agents that enhance GABA activity, such as benzodiazepines and baclofen, is also helpful for many patients.
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PMID:Stiff Person syndrome and other anti-GAD-associated neurologic disorders. 2367 66

Among paraneoplastic neurologic disorders (PND), opsoclonus-myoclonus syndrome, so-called "dancing eye syndrome," is a rare disorder combining multivectorial eye movements, involuntary multifocal myoclonus, and cerebellar ataxia. Although several paraneoplastic antibodies against postsynaptic or cell-surface antigens have been reported, usually most patients are serum antibody negative. We report a 65-year-old patient with opsoclonus-myoclonus syndrome revealing a small-cell lung carcinoma. If serologic antineuronal anti-body screening was negative, autoantibodies against glutamic acid decarboxylase (anti-GAD) were positive. Despite the specific anticancer treatment and high dose corticosteroids, the patient developed a severe and progressive encephalopathy and died 10 days later.
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PMID:"Dancing eye syndrome" secondary to opsoclonus-myoclonus syndrome in small-cell lung cancer. 2477 58

West Nile virus (WNV) is an arthropod borne neurotropic single stranded RNA flavivirus with <1% developing presenting with neurological disease. Immunocompromised and elderly patients are more prone to developing WNV meningitis or encephalitis. Definitive diagnosis of WNV meningoencephalitis is a combination of clinical suspicion and cerebrospinal fluid (CSF) serology. Forty-eight year old Caucasian female presented with a sudden onset of altered mental status after being found unresponsive. She was confused with intermittent bouts of alertness/lethargy and unintelligible responses to questioning. Her medical problems included endometrial cancer that was in remission after undergoing a total abdominal hysterectomy with bilateral salpingectomy and postoperative chemotherapy with paclitaxel and carboplatin. Pertinent physical examination revealed muscle strength that was significantly decreased, nuchal rigidity and +2 pitting edema of both lower extremities. Computed tomography and magnetic resonance imaging of the brain were negative for any intracranial pathology. CSF analysis was consistent with aseptic meningitis with all CSF serology being negative except for positive WNV antibody. A few days after being admitted she developed involuntary random movements of her eyes and generalized jerking movements (myoclonus). This was determined to be opsoclonus myoclonus syndrome (OMS) induced by the WNV meningoencephalitis. She then received five consecutive days of plasmapheresis with a significant improvement in her neurological status. Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disorder associated with chaotic multidirectional eye movements, myoclonus and less frequently cerebellar ataxia. OMS affects as few as 1 in 10,000,000 people per year. The pathogenesis is not fully understood with the majority of cases of opsoclonus-myoclonus syndrome being idiopathic. According to current medical literature there have only been two previous case reports of opsoclonus myoclonus syndrome associated with WNV encephalitis.
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PMID:West nile virus encephalitis induced opsoclonus-myoclonus syndrome. 2498 3

Acute cerebellar ataxia (ACA) is a relatively common neurological disease in children. Most common types of ACA are acute post-infectious (APCA) and acute disseminated encephalomyelitis (ADEM). Less common but important causes include opsoclonus-myoclonus syndrome (OMS) and acute cerebellitis. Cerebellar neoplasms and acute hydrocephalus are additional causes of paediatric ataxia. APCA is the most common cause of ACA in children, comprising about 30-50% of total cases. This is a report about an immunocompetent 4-yrs-old male affected by APCA, due to co-infection by human herpesvirus-6 (HHV-6) and adenovirus, with symptoms mimicking myositis.
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PMID:Acute post-infectious cerebellar ataxia due to co-infection of human herpesvirus-6 and adenovirus mimicking myositis. 2542 77

Hashimoto's encephalopathy (HE) is a rare condition characterized by atypical psychiatric and heterogeneous neurological manifestations such as acute cerebral ischemia, seizure, tremors, myoclonus, psychosis, depression, cognitive disorders, and fluctuating loss of consciousness. Here, a case of 28 year-old man was reported who referred to the emergency department (ED) with different acute neurologic disorders and final diagnose of HE.
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PMID:Hashimoto Encephalopathy in Case of Progressive Cognitive Impairment; a Case Report. 2649 68

Dopamine transporter (DaT) single-photon emission computed tomography (SPECT) and [18F]fluoro-L-DOPA ([18F]DOPA) positron emission tomography (PET) facilitate the investigation of dopaminergic hypofunction in neurodegenerative diseases. DaT SPECT and [18F]DOPA PET have been adopted as survey tools in clinical trials. In a large study on Parkinson's disease, 4-15% of subjects clinically diagnosed with early-stage Parkinson's disease had normal dopaminergic functional imaging scans. These are called Scans without Evidence of Dopamine Deficit (SWEDDs), and are considered to represent a state different from Parkinson's disease. Neurological diseases that exhibit parkinsonism and have normal dopaminergic cells in the nigrostriatal system (e.g., essential tremor, psychogenic parkinsonism, DOPA-responsive dystonia, vascular parkinsonism, drug-induced parkinsonism, manganism, brain tumor, myoclonus-dystonia (DYT11), and fragile X syndrome) might be diagnosed with SWEDDs. True bradykinesia with fatigue or decrement may be useful for distinguishing between Parkinson's disease and SWEDDs. However, because SWEDDs encompass many diseases, their properties may not be uniform. In this review, we discuss DaT SPECT, the concept of SWEDDs, and differential diagnosis.
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PMID:[Scans without Evidence of Dopamine Deficit (SWEDDs)]. 2676 1

Autoimmune movement disorders encapsulate a large and diverse group of neurologic disorders occurring either in isolation or accompanying more diffuse autoimmune encephalitic illnesses. The full range of movement phenomena has been described and, as they often occur in adults, many of the presentations can mimic neurodegenerative disorders, such as Huntington disease. Disorders may be ataxic, hypokinetic (parkinsonism), or hyperkinetic (myoclonus, chorea, tics, and other dyskinetic disorders). The autoantibody targets are diverse and include neuronal surface proteins such as leucine-rich, glioma-inactivated 1 (LGI1) and glycine receptors, as well as antibodies (such as intracellular antigens) that are markers of a central nervous system process mediated by CD8+ cytotoxic T cells. However, there are two conditions, stiff-person syndrome (also known as stiff-man syndrome) and progressive encephalomyelitis with rigidity and myoclonus (PERM), that are always autoimmune movement disorders. In some instances (such as Purkinje cell cytoplasmic antibody-1 (PCA-1) autoimmunity), antibodies detected in serum and cerebrospinal fluid can be indicative of a paraneoplastic cause, and may direct the cancer search. In other instances (such as 65kDa isoform of glutamic acid decarboxylase (GAD65) autoimmunity), a paraneoplastic cause is very unlikely, and early treatment with immunotherapy may promote improvement or recovery. Here we describe the different types of movement disorder and the clinical features and antibodies associated with them, and discuss treatment.
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PMID:Autoimmune movement disorders. 2711 84

Functional neurologic disorders are largely genuine and represent conversion disorders, where the dysfunction is unconscious, but there are some that are factitious, where the abnormality is feigned and conscious. Malingering, which can have the same manifestations, is similarly feigned, but not considered a genuine disease. There are no good methods for differentiating these three entities at the present time. Physiologic studies of functional weakness and sensory loss reveal normal functioning of primary motor and sensory cortex, but abnormalities of premotor cortex and association cortices. This suggests a top-down influence creating the dysfunction. Studies of functional tremor and myoclonus show that these disorders utilize normal voluntary motor structures to produce the involuntary movements, again suggesting a higher-level abnormality. Agency is abnormal and studies shows that dysfunction of the temporoparietal junction may be a correlate. The limbic system is overactive and might initiate involuntary movements, but the mechanism for this is not known. The limbic system would then be the source of top-down dysfunction. It can be speculated that the involuntary movements are involuntary due to lack of proper feedforward signaling.
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PMID:Neurophysiologic studies of functional neurologic disorders. 2771 76


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