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Adrian Danek – One of the best experts on this subject based on the ideXlab platform.

  • Neurofilament light chain in serum is significantly increased in chorea-Acanthocytosis.
    Parkinsonism & Related Disorders, 2020
    Co-Authors: Kevin Peikert, Adrian Danek, Katja Akgün, Christian Beste, Tjalf Ziemssen, Carsten Buhmann, Andreas Hermann
    Abstract:

    Abstract Introduction Chorea-Acanthocytosis (ChAc) is a rare hereditary neurodegenerative disease, characterized by hyper- and hypokinetic movement disorders, peripheral neuropathy and Acanthocytosis. Biomarkers are not established; possible candidates include neurofilament reflecting neuroaxonal damage. Methods We studied serum neurofilament light chain (sNfL) of six ChAc patients compared to two healthy control cohorts (A, six age/sex matched and B, historical cohort of 59 healthy adult subjects) and in two patients with the very similar condition of McLeod syndrome (MLS), the second core syndrome of neuroAcanthocytosis. sNfL was quantified using single-molecule array analysis. Results sNfL concentration was significantly higher in the ChAc cohort (18.73 pg/ml; IQR 15.65–27.70) compared to both healthy control cohorts (A, 7.37 pg/ml; IQR 5.60–9.05; B, 3.10 pg/ml; IQR 2.43–3.98). In MLS patients, a similar sNfL increase was observed. Conclusions sNfL is significantly increased in ChAc and MLS and seems to reflect neuroaxonal damage in the peripheral as well as the central nervous system.

  • hippocampal sclerosis and mesial temporal lobe epilepsy in chorea Acanthocytosis a case with clinical pathologic and genetic evaluation
    Neuropathology and Applied Neurobiology, 2017
    Co-Authors: Karin Mente, Adrian Danek, Christopher Grunseich, Marco M Hefti, John F Crary, Barbara I Karp, Ruth H. Walker
    Abstract:

    Chorea-Acanthocytosis (ChAc) is an autosomal recessive neurodegenerative disease associated with mutations in VPS13A that encodes the protein chorein. ChAc is characterized by progressive chorea, dystonia, and psychiatric symptoms, developing in young adulthood, often with Acanthocytosis in peripheral blood. Tongue protrusion, or feeding dystonia, is common, as are seizures and neuropathy [1]. On neuropathology, there is basal ganglia atrophy, neuronal loss, and gliosis, especially in the caudate nucleus [2]. We report the case of a patient with ChAc with hippocampal sclerosis who had extensive longitudinal follow-up, including neuropathology and general autopsy. This article is protected by copyright. All rights reserved.

  • Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia
    Fortschritte der Neurologie-Psychiatrie, 2017
    Co-Authors: Christian Schneider, Adrian Danek, Arwed Hostmann, Gereon R Fink, Lothar Burghaus
    Abstract:

    Chorea-Acanthocytosis is an uncommon neurodegenerative disorder. Early diagnosis is often challenging. The triad of orofacial dyskinesia, epileptic seizures, and hyperCKemia should alert neurologists of a neuroAcanthocytosis syndrome. The diagnosis can be confirmed by detection of chorein deficiency or through molecular genetics (VPS13A mutation).

Ulrich Salzer – One of the best experts on this subject based on the ideXlab platform.

  • Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic
    PloS one, 2015
    Co-Authors: Jasmin Schiessl-weyer, Pedro Roa, Franco Laccone, Britta Kluge, Alexander Tichy, Euripedes De Almeida Ribeiro, Rainer Prohaska, Peter Stoeter, Claudia Siegl, Ulrich Salzer
    Abstract:

    Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). Pantothenate kinases catalyze the rate-limiting step of coenzyme A synthesis and Pank2 is the only pantothenate kinase isoform in humans that is localized to mitochondria. Acanthocytosis, the occurrence of spiculated erythrocytes, is observed in about 10% of the PKAN patients. Therefore PKAN is also classified together with other rare neurodegenerative diseases like Chorea Acanthocytosis (ChAc) and McLeod syndrome (MLS) into the NeuroAcanthocytosis (NA) syndromes. It has not been investigated yet whether Acanthocytosis in PKAN is associated with a specific subset of Pank2 mutations. In this study, we analyzed Acanthocytosis of a cohort of 25 PKAN patients from the Dominican Republic that are homozygous for the c.680 A>G mutation in the PANK2 gene as compared to control donors that are heterozygous or wild-type with respect to this mutation. 3D modeling of this mutation indicated that the replacement of a tyrosine by a cysteine at position 227 in Pank2 disrupts a polar interaction within the A domain of the enzyme. Mean acanthocyte count was elevated in the cohort of patients, however, Acanthocytosis varied among the patients with nearly half of them showing high (>20%) or elevated Acanthocytosis and the rest showing mild (6-10%) or no (

  • Acanthocytosis and the c 680 a g mutation in the pank2 gene a study enrolling a cohort of pkan patients from the dominican republic
    PLOS ONE, 2015
    Co-Authors: Jasmin Schiesslweyer, Pedro Roa, Franco Laccone, Britta Kluge, Alexander Tichy, Euripedes De Almeida Ribeiro, Rainer Prohaska, Peter Stoeter, Claudia Siegl, Ulrich Salzer
    Abstract:

    Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). Pantothenate kinases catalyze the rate-limiting step of coenzyme A synthesis and Pank2 is the only pantothenate kinase isoform in humans that is localized to mitochondria. Acanthocytosis, the occurrence of spiculated erythrocytes, is observed in about 10% of the PKAN patients. Therefore PKAN is also classified together with other rare neurodegenerative diseases like Chorea Acanthocytosis (ChAc) and McLeod syndrome (MLS) into the NeuroAcanthocytosis (NA) syndromes. It has not been investigated yet whether Acanthocytosis in PKAN is associated with a specific subset of Pank2 mutations. In this study, we analyzed Acanthocytosis of a cohort of 25 PKAN patients from the Dominican Republic that are homozygous for the c.680 A>G mutation in the PANK2 gene as compared to control donors that are heterozygous or wild-type with respect to this mutation. 3D modeling of this mutation indicated that the replacement of a tyrosine by a cysteine at position 227 in Pank2 disrupts a polar interaction within the A domain of the enzyme. Mean acanthocyte count was elevated in the cohort of patients, however, Acanthocytosis varied among the patients with nearly half of them showing high (>20%) or elevated Acanthocytosis and the rest showing mild (6-10%) or no (<6%) Acanthocytosis. Heterozygous control donors revealed a tendency to mild Acanthocytosis. Based on the insight that Pank2 is a normal constituent of red blood cells and de novo biosynthesis of coenzyme A is likely to take place in the erythrocyte cytosol we propose a hypothetical model that accounts for the variability in the occurrence of acanthocytic cells in PKAN.

Akira Sano – One of the best experts on this subject based on the ideXlab platform.

  • mouse model of chorea Acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece
    Biochemical and Biophysical Research Communications, 2018
    Co-Authors: Omi Nagata, Masayuki Nakamura, Hitoshi Sakimoto, Yuka Urata, Natsuki Sasaki, Nari Shiokawa, Akira Sano
    Abstract:

    Abstract Chorea-Acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and Acanthocytosis caused by loss-of-function mutations in the Vacuolar Protein Sorting 13 Homolog A (VPS13A) gene, which encodes chorein. We previously produced a ChAc-model mouse with a homozygous deletion of exons 60–61 in Vps13a, which corresponded to the human disease mutation. We found that male ChAc-model mice exhibited complete infertility as a result of severely diminished sperm motility. Immunocytochemical study revealed that chorein-like immunoreactivity is abundant only in the midpiece, mitochondria-rich region, of the sperm of wild type mice. They showed no significant differences from wild types in terms of the adenosine 5′-triphosphate (ATP) concentration of their sperm, sperm count, or sexual activity. Electron microscopy revealed abnormal ultrastructural morphology of the mitochondria in the midpiece of sperm from ChAc-model mice. These results suggest that chorein is essential in mouse sperm for the maintenance of ultrastructural mitochondrial morphology and sperm motility.

  • seizures as presenting and prominent symptom in chorea Acanthocytosis with c 2343del vps13a gene mutation
    Epilepsia, 2016
    Co-Authors: Felix Benninger, Akira Sano, Masayuki Nakamura, Zaid Afawi, Amos D Korczyn, Karen L Oliver, Manuela Pendziwiat, Ingo Helbig, Samuel F Berkovic
    Abstract:

    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.

  • Neurologic phenotypes associated with Acanthocytosis.
    Neurology, 2007
    Co-Authors: Ruth H. Walker, Akira Sano, Luca Rampoldi, Carol Dobson-stone, Hans H Jung, François Tison, Adrian Danek
    Abstract:

    The term “neuroAcanthocytosis” is normally used to refer to autosomal recessive chorea-Acanthocytosis and X-linked McLeod syndrome, but there are other movement disorders in which erythrocyte Acanthocytosis may also be seen, such as Huntington disease-like 2 and pantothenate kinase-associated neurodegeneration. Disorders of serum lipoproteins such as Bassen-Kornzweig disease form a distinct group of neuroAcanthocytosis syndromes in which ataxia is observed, but movement disorders are not seen. Genetic testing has enabled us to distinguish between these disorders, even when there are considerable similarities between phenotypes. Improved detection is important for accurate genetic counseling, for monitoring for complications, and, it is hoped, for implementing causal treatments, once these become available. As in other neurodegenerative conditions, animal models are a promising strategy for the development of such therapies.