Testing for acanthocytosis

Storch, Alexander; Kornhass, Markus; Schwarz, Johannes

doi:10.1007/s00415-005-0616-3

Cited by 96 publications

(41 citation statements)

References 10 publications

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“…Automated blood counts usually show an elevated number of hyperchromic erythrocytes. A more sensitive and specific method for the detection of acanthocytes uses a 1:1 dilution with physiological saline and phase contrast microscopy [39]. In contrast to the often elusive acanthocyte search, serum CK is elevated in most cases of ChAc and MLS.…”

Section: Diagnostic Considerationsmentioning

confidence: 99%

Neuroacanthocytosis Syndromes

Jung

Danek

Walker

2011

Orphanet J Rare Dis

163

152

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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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Section: Diagnostic Considerationsmentioning

confidence: 99%

Neuroacanthocytosis Syndromes

Jung

Danek

Walker

2011

Orphanet J Rare Dis

163

152

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“…Elevated creatine kinase and liver enzymes are common and should not be attributed to seizures. Detection of acanthocytosis may be enhanced by use of a standard protocol [66], but a negative result does not exclude the diagnosis.…”

Section: Chorea-acanthocytosismentioning

confidence: 99%

Diagnosis and Treatment of Chorea Syndromes

Hermann

Walker

2015

Curr Neurol Neurosci Rep

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Chorea is a common movement disorder which can be caused by a large variety of diseases including neurodegenerative diseases, metabolic diseases, and autoimmune diseases, or can be secondary to structural changes. The basal ganglia seem to be mainly involved in the pathophysiology indicating the vulnerability of this region. The diagnosis can be challenging, especially if chorea occurs during the treatment of neuropsychiatric conditions, and in these cases, it is difficult to distinguish between medication side effects (i.e., tardive dyskinesia) and the development of a neurodegenerative disease. Most therapeutic approaches are predominantly symptomatic, with a focus on multidisciplinary care for many patients. Nevertheless, some underlying diseases can be successfully treated and must not be missed. In this review, we summarize recent new developments in the differential diagnosis of chorea syndromes and suggest a pathway for a successful diagnosis of chorea in infancy, childhood, and adulthood for daily practice.

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“…Dabei spielen neben biologischen auch technische Aspekte eine Rolle. Das als Methode der Wahl empfohlene Vorgehen nach Storch et al steht leider nur selten zur Verfügung [14]. Dabei wird die Blutprobe mit isotonischer Kochsalzlösung verdünnt und als Nasspräparat beurteilt.…”

Section: Diagnostik Und Differenzialdiagnostische üBerlegungenunclassified