Neuroacanthocytosis and carbamazepine responsive paroxysmal dyskinesias

Tschopp, Lorena; Raina, Gabriela; Salazar, Zulema; Micheli, Federico

doi:10.1016/j.parkreldis.2007.10.006

“…Additionally there are several genetically defined disorders in which acanthocytosis is occasionally seen, such as PKAN [12] and Huntington disease-like 2 (HDL2; ORPHA98934) [13]. Occasional rare cases or families are reported where acanthocytes are present in concert with other extrapyramidal features, such as paroxysmal dyskinesias [14] or mitochondrial disease [15]. …”

Section: Definitionmentioning

confidence: 99%

“…Patients may develop psychiatric abnormalities as the initial manifestation, with later appearance of chorea, parkinsonism and dystonia [14]. The disease may evolve from chorea to a more bradykinetic, dystonic phenotype, or remain parkinsonian throughout the disease course, but unlike HD, this is not related to the size of the trinucleotide expansion.…”

Section: Clinical Characteristicsmentioning

confidence: 99%

Neuroacanthocytosis Syndromes

Jung

¹

,

Danek

²

,

Walker

³

2011

Orphanet J Rare Dis

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Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses include Huntington disease and other causes of progressive hyperkinetic movement disorders. There are no curative therapies for NA syndromes. Regular cardiologic studies and avoidance of transfusion complications are mandatory in McLeod syndrome. The hyperkinetic movement disorder may be treated as in Huntington disease. Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades.

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“…Therefore valproate’s action may be mediated by both GABAergic and antiexcitotoxic effects, but could be also related to the inhibition of histone deacetylase. Carbamazepine can also reduce the choreiform movements in some patients through the stabilization of inactivated state of voltage-gated sodium channels [74, 75, 77]. The newer AEDs, may represent an alternative in the treatment of paroxysmal kinesiogenic choreoathetosis; in fact, gabapentin and levetiracetam have been reported to be useful in the management of patient with hemichorea/hemiballism [78, 79], while topiramate is reported to improve both vascular hemichorea/hemiballism [80, 81] and vascular generalized chorea [55].…”

Section: Drugs Treatment Of Hyperkinetic Movement Disordersmentioning

confidence: 99%

Use of Antiepileptic Drugs for Hyperkinetic Movement Disorders

Siniscalchi

¹

,

Gallelli²,

Sarro³

2010

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Many studies investigated the use of antiepileptic drugs (AEDs) in several neurological diseases other than epilepsy. These neurological disorders, usually, involve neuronal excitability through the modulating of ion channels, receptors and intracellular signaling pathways, and are the targets of the AEDs. This article provides a review of the clinical efficacy of both conventional and newer AEDs in hyperkinetic movement disorders. Some of these indications for AEDs have been established, while others are under investigation. The modulation of GABAergic transmission may explain the neuronal hyper-excitability that underlies some forms of hyperkinetic movement disorders. So, AEDs able to increase GABAergic neurotransmission may play a role in hyperkinetic movement disorders treatment. Therefore, AEDs could represent a useful therapeutic option in the management of hyperkinetic movement disorders where the available treatments are ineffective.

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“…Huntington's Disease-like 2 HDL2 presents usually in young adulthood, but, as with HD, the age of onset is inversely related to the size of the trinucleotide repeat expansion (Table 2) [30]. Patients may develop psychiatric abnormalities as the initial manifestation, with later appearance of chorea, parkinsonism and dystonia [14]. The disease may evolve from chorea to a more bradykinetic, dystonic phenotype, or remain parkinsonian throughout the disease course, but unlike HD, this is not related to the size of the trinucleotide expansion.…”

Section: Mcleod Neuroacanthocytosis Syndromementioning

confidence: 99%

Neuroacanthocytosis Syndromes

Walker

¹

2010

Encyclopedia of Movement Disorders

0

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Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses include Huntington disease and other causes of progressive hyperkinetic movement disorders. There are no curative therapies for NA syndromes. Regular cardiologic studies and avoidance of transfusion complications are mandatory in McLeod syndrome. The hyperkinetic movement disorder may be treated as in Huntington disease. Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades.

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Neuroacanthocytosis and carbamazepine responsive paroxysmal dyskinesias

Cited by 13 publications

References 9 publications

Neuroacanthocytosis Syndromes

Neuroacanthocytosis Syndromes

Use of Antiepileptic Drugs for Hyperkinetic Movement Disorders

Neuroacanthocytosis Syndromes

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