Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

As a clinical diagnostic approach, the evoked potential has been used to differentiate movement disorders, especially myoclonic movements, Giant somatosensory evoked potentials (SEPs) and long-loop reflex to electrical stimulation of the peripheral nerve are commonly employed in the evaluation of patients with myoclonus. Recently, abnormality in a specific component of SEP frontal N30 has been reported in focal dystonia. Jerk locked back averaging has been applied to cortical reflex myoclonus, minipolymyoclonus, cortical tremor, simple tics, chorea-acanthocytosis, Huntington's chorea, etc. Silent period locked averaging is also used for asterixis. With these new electrophysiological techniques, evaluation of functional mechanisms in movement disorders may be expected, with fruitful results.
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PMID:[Clinical diagnosis of movement disorders--evoked potentials]. 827 66

We report a patient of chorea-acanthocytosis (CA), presenting with dilated cardiomyopathy and myopathy. The patient, 40-year-old male, was seen in our clinic because of progressive gait disturbance. Neurologically, he had chorea, tic, dystonia, diminished tendon reflexes and mild muscular atrophy and weakness. Serum creatine kinase level was elevated to 5.514 IU/l, MRI study showed atrophy of the putamen and caudate nucleus. Peripheral nerve involvement was confirmed pathologically and electrophysiologically. Acanthocytosis was found after repeated blood examinations. Furthermore, he had dilated cardiomyopathy on echocardiogram and cardiac muscle biopsy, and his muscle biopsy taken from gastrocnemius indicated myopathic changes with fiber necrosis. From these clinical and laboratory data, he was suspected to have McLeod syndrome (McS). However, he had normal expression of Kell antigens, and direct sequence of XK gene from genomic DNA sample showed no mutations. Accordingly, he was diagnosed as having CA. As CA shares the similar clinical and laboratory features with McS except Kell antigens, the evaluation of Kell blood system is crucial for differential diagnosis. As seen in our patient, blood sampling should be repeated for identification of acanthocytosis, because the finding is not always clearly present.
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PMID:[A case of chorea-acanthocytosis with dilated cardiomyopathy and myopathy]. 1121 3

Neurological abnormalities associated with spiculated, "acanthocytic" red cells in blood have been summarized as neuroacanthocytosis. This is a heterogeneous group of conditions that can now be clearly subdivided on the basis of genetic discoveries. The core neuroacanthocytosis syndromes are autosomal recessive chorea-acanthocytosis (ChAc) and the X-linked McLeod syndrome (MLS). Huntington's disease-like 2 (HLD2) and pantothenate kinase associated neurodegeneration (PKAN) can now also be included. All of these share dyskinesias, cognitive deterioration and progressive neurodegeneration mainly of the basal ganglia, but they are sufficiently distinct to permit a specific working diagnosis on the basis of clinical, laboratory and imaging findings. In addition, the VPS13A (formerly called CHAC), XK, JPH3 and PANK2 genes, respectively, may be examined for mutations. Unfortunately, little is yet known about the normal and abnormal physiology of the protein products of these genes, but they appear to be involved in membrane function and intracellular protein sorting. Since no cures are yet available, development and study of disease models in experimental animals (mouse, C. elegans) is a priority for current research. From a clinical point of view, the common occurrence of cardiomyopathy in MLS, the transfusion hazards due to the McLeod Kell phenotype and the possibility of improving the violent trunk spasms and orofacial dyskinesias typical for ChAc (with subsequent lip or tongue mutilations and feeding dystonia) by deep brain surgery or stimulation should be considered in patient management.
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PMID:Neuroacanthocytosis: new developments in a neglected group of dementing disorders. 1576 Jun 37

The chorea-acanthocytosis syndrome (CHAC) is a rare disorder beginning in late adolescent or adult life in association with acanthocytosis, a normal lipid profile and characterized by progressive neurological disease. The inheritance is usually autosomal recessive, although apparent sporadic and autosomal dominant instances are also known. We report here a young man who presented with choreo-athetoid movement, dystonia, tics, symmetrical axonal polyneuropathy with normal cognitive function. The subsequent peripheral blood film reveals acanthocytes > 5%. Diagnosis of neuroacanthocytosis was made.
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PMID:Neuroacanthocytosis: a rare inherited movement disorder. 1894 8

Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea-acanthocytosis.
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PMID:Characteristic head drops and axial extension in advanced chorea-acanthocytosis. 2054 15

The neuroacanthocytoses are a group of disorders characterised by peripheral blood acanthocytes, central nervous system as well as neuromuscular symptoms. These disorders uniformly result in pathology in the basal ganglia, which account for the characteristic motor symptoms such as chorea or dystonia, but may also account for the apparent elevated rates of major mental disorders in these syndromes. Elevated rates of dysexecutive syndromes, obsessive-compulsive disorder, depression and schizophrenia-like psychosis appear to occur in chorea-acanthocytosis, McLeod's syndrome, pantothenate kinase-associated neurodegeneration, and Huntington's disease-like 2. Disruptions to key frontostriatal loops secondary to pathology in the striatum and pallidum appear to predispose individuals to major neuropsychiatric syndromes; however, treatment can be instituted for a number of these manifestations, which lessens the overall burden of disease in neuroacanthocytosis patients and their families.
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PMID:The neuropsychiatry of neuroacanthocytosis syndromes. 2123 98

The term "neuroacanthocytosis" describes a heterogeneous group of molecularly-defined disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. The clinical presentation of neuroacanthocytosis syndromes typically involves chorea and dystonia, but a range of other movement disorders may be seen. Psychiatric and cognitive symptoms may be prominent. There can be considerable phenotypic overlap; however, features of inheritance, age of onset, neuroimaging and laboratory findings, in addition to the spectrum of central and peripheral neurological abnormalities and extraneuronal involvement, can help to distinguish the specific syndromes. The two core neuroacanthocytosis syndromes, in which acanthocytosis is a typical, although not invariable finding, are autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome. Acanthocytes are found in a smaller proportion of patients with Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration. Additionally, acanthocytosis has been reported in a few patients with other neurological disorders. The causative genes do not appear to be linked by a specific function or pathway, although abnormalities of membrane processing may be implicated. The connection between the erythrocyte membrane abnormality, which results in the characteristic "thorny" protrusions, the vulnerability of the basal ganglia, and the respective genetic mutations, is obscure.
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PMID:Neuroacanthocytosis. 2149 74

Chorea-acanthocytosis is a rare autosomal recessive disorder. To date, treatment is only symptomatic and supportive. Results from the few reports of chorea-acanthocytosis patients treated with deep brain stimulation (DBS) have been inconsistent. We present case reports for two patients with chorea-acanthocytosis who received DBS treatment and compare the outcomes with results from the literature. Both patients showed the typical clinical features of chorea-acanthocytosis with motor symptoms resistant to medical treatment. Chorea was significantly improved following low-frequency DBS treatment in both patients. However, dystonia was only mildly improved. Four chorea-acanthocytosis patients treated with DBS treatment have been reported in the literature. One patient had improvement with low-frequency DBS stimulation, while another two had improvement with higher-frequency DBS. One patient, however, did not improve with either low-frequency or high-frequency DBS. Bilateral DBS to the GPi can improve chorea and dystonia in some patients with intractable chorea-acanthocytosis. However, selection criteria for the most promising candidates must be defined, and the long-term benefits evaluated in clinical studies.
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PMID:Deep brain stimulation of the globus pallidus internal improves symptoms of chorea-acanthocytosis. 2186 67


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PMID:Cognitive impairment in "Other" movement disorders: hidden defects and valuable clues. 2475 17

The aim of this article is to present two Slovenian chorea-acanthocytosis (ChAc) siblings with an unusual predominantly dystonic ChAc phenotype. For diagnostic purposes, the genomic DNA was screened for VPS13A mutations. Movement disorder was evaluated and scored according to the Dystonia Movement and Disability Scale (DMDS) in order to evaluate the effects of L-dopa on dystonia. Brain imaging was performed with the use of magnetic resonance imaging scan and 99m Tc-ethyl cysteinate dimmer single photon emission computed tomography (Tc-ECD SPECT). Clinical neurological examination disclosed gait dystonia. Marked swallowing difficulty due to tongue and feeding dystonia was observed. Both siblings were found to be heterozygous for a substitution in exon 22 (c.2191C>T) and for a deletion in exon 35 (c.3995_3996delinsA) leading to mutation in VPS13A. After being administered L-dopa for three months, both subjects showed significant symptomatic improvement documented by reduced DMDS scores. It is concluded that VPS13A mutation testing may improve diagnosis of dystonia and recognition of atypical ChAc phenotypes. It seems that L-dopa could be effective in the treatment of dystonia due to VPS13A mutations.
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PMID:Chorea-acanthocytosis presenting as dystonia. 2497 74


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