Neuroacanthocytosis

Danek, Adrian; Bader, Benedikt; Walker, Ruth H.

doi:10.1590/s1807-59322008000100021

Cited by 3 publications

(5 citation statements)

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“…This neurodegenerative disorder is caused by mutations in the VPS13A gene, previously known as CHAC, which codes for the protein chorein. Acanthocytes may not be detected in a peripheral blood smear in some cases with a final diagnosis of neuroacanthocytosis, possibly due to either low sensitivity of blood films or variability in acanthocyte manifestation . Furthermore, between 1 and 5% of acanthocytes per 100 red blood cells in a peripheral blood smear may be a normal finding .…”

Section: Introductionmentioning

confidence: 98%

“…The diagnosis can be confirmed by demonstrating the McLeod blood group phenotype, that is negativity for Kx erythrocyte antigen and weakened or absent expression of at least two to three antithetic pairs of Kell antigens (Kell/Cellano, Kpa/b, Jsa/b) in the appropriate clinical context. Unfortunately, testing for Kell antigens on red blood cells can only be confirmed by specialized laboratories that have the requisite antibody panel .…”

Section: Introductionmentioning

confidence: 99%

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Hereditary chorea - what else to consider when the Huntington's disease genetics test is negative?

Malek

2016

Acta Neurol Scand

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Chorea, cognitive, behavioural and psychiatric disturbance occur in varying combinations in Huntington's disease (HD). This is often easy to recognise particularly in the presence of an autosomal dominant history. Whilst HD may be the most common aetiology of such a presentation, several HD phenocopies should be considered if genetic testing for HD is negative. We searched PubMed and the Cochrane Database from January 1, 1946 up to January 1, 2016, combining the search terms: 'chorea', 'Huntington's disease', 'HDL' and 'phenocopies'. HD phenocopies frequently display additional movement disorders such as myoclonus, dystonia, parkinsonism and tics. Here, we discuss the phenotypes, and investigations of HD-like disorders where the combination of progressive chorea and cognitive impairment is obvious, but HD gene test result is negative. Conditions presenting with sudden onset chorea such as vascular, infectious and autoimmune causes are not the primary focus of our discussion, but we will make a passing reference to these as some of these conditions are potentially treatable. Hereditary forms of chorea are a heterogeneous group of conditions and this number is increasing. While most of these conditions are not curable, molecular genetic testing has enabled many of these disorders to be distinguished from HD. Getting a precise diagnosis may enable patients and their families to better understand the nature of their condition.

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Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Hereditary chorea - what else to consider when the Huntington's disease genetics test is negative?

Malek

2016

Acta Neurol Scand

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“…Self‐injurious behavior (SIB) is a common behavior in individuals with intellectual disability (ID) and/or autism spectrum disorder in the context of neurodevelopmental disorders . SIB has also been reported in association with movement disorders such as chorea and tics in conditions like chorea‐acanthocytosis and Tourette syndrome . Here, we wish to highlight that when SIB and ID are seen in a dystonic syndrome leading to restraints (handcuffs), the most likely etiology is Lesch‐Nyhan syndrome (LNS).…”

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confidence: 99%

Dystonia in Handcuffs: A Picture Typical of Lesch‐Nyhan Syndrome

Menozzi

Latorre

Balint

et al. 2019

Movement Disord Clin Pract

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“…ChAc follows autosomal recessive inheritance, and the causative gene is VPS13A (vacuolar protein sorting 13A): a large gene on chromosome 9q21 comprising 73 exons . Reported variants of the gene comprise missense, nonsense, frameshift, splice site, duplication, and deletion mutations .…”

mentioning

confidence: 99%

“…The mean age of onset of ChAc is about 35 years, but symptoms may begin before age 20 or after age 40. The best‐characterized symptom complex is a hyperkinetic movement disorder, exhibiting choreiform as well as dystonic components, tics, and involuntary movements of facial, oral, lingual, pharyngeal, and laryngeal muscles . Other features of the syndrome are ocular motility abnormalities, neuropathy and myopathy, cognitive, and neuropsychiatric symptoms.…”

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confidence: 99%

Seizures as presenting and prominent symptom in chorea‐acanthocytosis with c.2343del VPS13A gene mutation

et al. 2016

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Objective: The aim of the study was to characterize the clinical features of nine patients in three families with chorea-acanthocytosis (ChAc) sharing the same rare c.2343del mutation in the VPS13A gene. Methods: Genetic test results, clinical description, magnetic resonance imaging (MRI), and electroencephalography (EEG), as well as laboratory results are summarized. Results: ChAc is a rare genetic disorder characterized by hyperkinetic movements, seizures, cognitive decline, neuropsychiatric symptoms, and acanthocytes on peripheral blood smear. This unique cohort of nine patients is characterized by seizures as a first and prominent symptom. In our patients, other features of ChAc appeared later, including tics, other movement disorders, dysarthria, and mild to moderate cognitive decline. Significance: Patients with chorea-acanthocytosis carrying the described rare mutation can present with focal, treatment-resistant seizures.

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Neuroacanthocytosis

Cited by 3 publications

References 3 publications

Hereditary chorea - what else to consider when the Huntington's disease genetics test is negative?

Hereditary chorea - what else to consider when the Huntington's disease genetics test is negative?

Dystonia in Handcuffs: A Picture Typical of Lesch‐Nyhan Syndrome

Seizures as presenting and prominent symptom in chorea‐acanthocytosis with c.2343del VPS13A gene mutation

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