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Neuroacanthocytosis Syndromes

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Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis.

Derek Spieler, Antonio Velayos-Baeza, Alžbeta Mühlbäck, Florian Castrop, Christian Maegerlein, Julia Slotta-Huspenina, Benedikt Bader, Bernhard Haslinger, Adrian Danek,

BACKGROUND:Chorea-acanthocytosis (ChAc; OMIM #200150) is a rare autosomal recessive condition with onset in early adulthood that is caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene encoding chorein. Several diagnostic genomic DNA (gDNA) sequencing approaches are widely used. However, their limitations appear not to be acknowledged thoroughly enough. ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2020, :e1179]

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Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report.

Fatima Ouchkat, Wafaa Regragui, Imane Smaili, Hajar Naciri Darai, Naima Bouslam, Mounia Rahmani, Adyl Melhaoui, Yasser Arkha, Elmostafa El Fahime, Ahmed Bouhouche,

BACKGROUND:Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromuscular signs. It is caused by mutations in VPS13A gene with autosomal recessive pattern of inheritance. CASE PRESENTATION:Here we report two patients belonging to a consanguineous Moroccan ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):47]

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Chorea-acanthocytosis with a novel mutation in the vacuolar protein sorting 13 homolog a gene: A case report.

Yasutake Tada, Tsuyoshi Hamaguchi, Yoshihisa Ikeda, Kazuo Iwasa, Yoshiaki Nishida, Masayuki Nakamura, Akira Sano, Masahito Yamada,

J. Neurol. Sci. (Journal of the neurological sciences)
[2020, 412:116731]

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Chorea-acanthocytosis: Time-dependent changes of symptoms and imaging findings.

Fumio Suzuki, Noriko Sato, Atsuhiko Sugiyama, Keiya Iijima, Yoko Shigemoto, Emiko Morimoto, Yukio Kimura, Hiroyuki Fujii, Yuji Takahashi, Yasuhiro Nakata, Hiroshi Matsuda, Osamu Abe,

BACKGROUND AND PURPOSE:Chorea-acanthocytosis, a rare neurodegenerative disease, affects both the striatum and the medial temporal lobe which may cause involuntary movements and epilepsy, respectively. We examined the imaging changes of the hippocampus/amygdala and the striatum as well as clinical symptoms. MATERIALS AND METHODS:We retrospectively reviewed 29 MRI and 13 SPECT ... Read more >>

J Neuroradiol (Journal of neuroradiology = Journal de neuroradiologie)
[2019, :]

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Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis.

Hannes Glaß, Patrick Neumann, Arun Pal, Peter Reinhardt, Alexander Storch, Jared Sterneckert, Andreas Hermann,

Chorea acanthocytosis (ChAc), an ultra-rare devastating neurodegenerative disease, is caused by mutations in the VPS13A gene, which encodes for the protein chorein. Affected patients suffer from chorea, orofacial dyskinesia, epilepsy, parkinsonism as well as peripheral neuropathy. Although medium spinal neurons of the striatum are mainly affected, other regions are impaired ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(5):]

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Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis.

Fumio Suzuki, Noriko Sato, Miho Ota, Atsuhiko Sugiyama, Yoko Shigemoto, Emiko Morimoto, Yukio Kimura, Noritaka Wakasugi, Yuji Takahashi, Akinori Futamura, Mitsuru Kawamura, Kenjiro Ono, Masayuki Nakamura, Akira Sano, Masako Watanabe, Hiroshi Matsuda, Osamu Abe,

BACKGROUND AND PURPOSE:Chorea-acanthocytosis is clinically difficult to distinguish from Huntington's disease because these disorders have similar symptoms and MR imaging findings. We evaluated the usefulness of single-case voxel-based morphometry (VBM) analysis for differentiating the two diseases as well as VBM analysis. MATERIALS AND METHODS:We examined five genetically proven chorea-acanthocytosis patients ... Read more >>

J. Neurol. Sci. (Journal of the neurological sciences)
[2020, 408:116545]

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Subthalamic nucleus deep brain stimulation in two siblings with chorea-acanthocytosis.

Yunhao Wu, Hongxia Li, Chencheng Zhang, Bomin Sun, Dianyou Li, Yiwen Wu,

Neurol. Sci. (Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology)
[2020, :]

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Novel VPS13A Gene Mutations in a South Asian, Indian Patient with Chorea‑acanthocytosis.

Akinori Futamura, Masayuki Nakamura, Mitsuru Kawamura, Akira Sano, Kenjiro Ono,

Neurol India (Neurology India)
[2020, 68(1):206-208]

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Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene.

Auli Verkkoniemi-Ahola, Liina Kuuluvainen, Sirpa Kivirikko, Liisa Myllykangas, Minna Pöyhönen,

J. Neurol. Sci. (Journal of the neurological sciences)
[2020, 408:116555]

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Corrigendum.

[This corrects the article DOI: 10.1002/mdc3.12586.]. ... Read more >>

Mov Disord Clin Pract (Movement disorders clinical practice)
[2019, 6(7):619]

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Phenotypic Variability in Huntington's Disease.

Anjali Chouksey, Sanjay Pandey,

Ann Indian Acad Neurol (Annals of Indian Academy of Neurology)
[2020, 23(2):153-154]

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Neuroacanthocytosis: a case report of chorea-acanthocytosis.

Yuanyuan Xiang, Shan Li, Xiaohui Liu, Jifeng Li, Qinjian Sun, Yan Chen, Yifeng Du, Junwei Wu,

Neuroacanthocytosis is a rare progressive neurodegenerative disease, including Chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2, and pantothenate kinase-associated neurodegeneration, where Chorea-acanthocytosis occupies the main entity of this disease group. Here, a classic case of Chorea-acanthocytosis is reported that exhibited gradually deteriorating abnormal movements of limbs and face, swallowing difficulty, and lip ... Read more >>

J. Integr. Neurosci. (Journal of integrative neuroscience)
[2019, 18(2):197-201]

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VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

Kishin Koh, Hiroyuki Ishiura, Haruo Shimazaki, Michiko Tsutsumiuchi, Yuta Ichinose, Haitian Nan, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama,

BACKGROUND:Alterations of vacuolar protein sorting-associated protein 13 (VPS13) family members including VPS13A, VPS13B, and VPS13C lead to chorea acanthocytosis, Cohen syndrome, and parkinsonism, respectively. Recently, VPS13D mutations were identified as a cause of VPS13D-related movement disorders, which show several phenotypes including chorea, dystonia, spastic ataxia, and spastic paraplegia. METHODS:We applied ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2020, 8(3):e1108]

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Neurodegeneration with Brain Iron Accumulation: Two Additional Cases with Dystonic Opisthotonus.

Sahil Mehta, Vivek Lal,

Background:Specific phenomenology and pattern of involvement in movement disorders point toward a probable clinical diagnosis. For example, forehead chorea usually suggests Huntington's disease; feeding dystonia suggests neuroacanthocytosis and risus sardonicus is commonly seen in Wilson's disease. Dystonic opisthotonus has been described as a characteristic feature of neurodegeneration with brain iron ... Read more >>

Tremor Other Hyperkinet Mov (N Y) (Tremor and other hyperkinetic movements (New York, N.Y.))
[2019, 9:]

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Criminal Behaviour Associated with a Novel Mutation in the VPS13A-Gene Causing Chorea-Acanthocytosis.

Søren Bruno Elmgreen,

Heralded by obsessive-compulsive disorder and anxiety, chorea-acanthocytosis may initially present in a psychiatric setting. As insidious onset of involuntary movements is commonly precipitated by dopamine blocking agents, this may not prompt further neurological investigation until symptoms progress after withdrawal of the suspected offending drug. Oromandibular dystonia and frontal disinhibition should ... Read more >>

Case Rep Psychiatry (Case reports in psychiatry)
[2019, 2019:5947416]

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A VPS13D spastic ataxia mutation disrupts the conserved adaptor binding site in yeast Vps13

Samantha Dziurdzik, Björn Bean, Michael Davey, Elizabeth Conibear,

Abstract Mutations in each of the four human VPS13 (VPS13A-D) proteins are associated with distinct neurological disorders: chorea-acanthocytosis, Cohen syndrome, early-onset Parkinson’s disease and spastic ataxia. Recent evidence suggests that the different VPS13 paralogs transport lipids between organelles at different membrane contact sites. How each VPS13 isoform is targeted to ... Read more >>

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McLeod Neuroacanthocytosis Syndrome

Hans H Jung, Adrian Danek, Ruth H Walker, Beat M Frey, Christoph Gassner,

CLINICAL CHARACTERISTICS:McLeod neuroacanthocytosis syndrome (designated as MLS throughout this review) is a multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males. CNS manifestations are a neurodegenerative basal ganglia disease including (1) movement disorders, (2) cognitive alterations, and (3) psychiatric symptoms. Neuromuscular manifestations include a (mostly ... Read more >>

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Efficacy of Deep Brain Stimulation in a Patient with Genetically Confirmed Chorea-Acanthocytosis.

Alby Richard, Joey Hsu, Patricia Baum, Ron Alterman, David K Simon,

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disease due to mutation of the VPS13A gene encoding the protein chorein. ChAc is a slowly progressive disorder that typically presents in early adulthood, and whose clinical features include chorea and dystonia with involuntary lip, cheek, and tongue biting. Some patients also ... Read more >>

Case Rep Neurol (Case reports in neurology)
[2019, 11(2):199-204]

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Chorea-Acanthocytosis

Antonio Velayos Baeza, Carol Dobson-Stone, Luca Rampoldi, Benedikt Bader, Ruth H Walker, Adrian Danek, Anthony P Monaco,

CLINICAL CHARACTERISTICS:Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy that can be subclinical, and chronic hyperCKemia in serum. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. The movement disorder is mostly limb chorea, but some ... Read more >>

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Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes.

Hossein Darvish, Luis J Azcona, Abbas Tafakhori, Roxana Mesias, Azadeh Ahmadifard, Elena Sanchez, Arman Habibi, Elham Alehabib, Amir Hossein Johari, Babak Emamalizadeh, Faezeh Jamali, Marjan Chapi, Javad Jamshidi, Yuji Kajiwara, Coro Paisán-Ruiz,

Intellectual disability (ID), which presents itself during childhood, belongs to a group of neurodevelopmental disorders (NDDs) that are clinically widely heterogeneous and highly heritable, often being caused by single gene defects. Indeed, NDDs can be attributed to mutations at over 1000 loci, and all type of mutations, ranging from single ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):968]

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Selection on VPS13A linked to migration in a songbird.

David P L Toews, Scott A Taylor, Henry M Streby, Gunnar R Kramer, Irby J Lovette,

Animal migration demands an interconnected suite of adaptations for individuals to navigate over long distances. This trait complex is crucial for small birds whose migratory behaviors-such as directionality-are more likely innate, rather than being learned as in many longer-lived birds. Identifying causal genes has been a central goal of migration ... Read more >>

Proc. Natl. Acad. Sci. U.S.A. (Proceedings of the National Academy of Sciences of the United States of America)
[2019, 116(37):18272-18274]

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Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report.

Jianping Jiang, Jinwei Huang, Jianlei Gu, Xiaoshu Cai, Hongyu Zhao, Hui Lu,

BACKGROUND:Spinal muscular atrophy (SMA) is a rare neuromuscular disorder threating hundreds of thousands of lives worldwide. And the severity of SMA differs among different clinical types, which has been demonstrated to be modified by factors like SMN2, SERF1, NAIP, GTF2H2 and PLS3. However, the severities of many SMA cases, especially ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2019, 20(1):204]

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Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration.

Yasaman Saeedi, Foad Kazemi, Seyed Amir Hassan Habibi, Abbas Tafakhori, Ahmad Chitsaz, Alfonso Fasano, Anthony E Lang, Mohammad Rohani,

BACKGROUND:Tongue protrusion dystonia is an uncommon focal dystonia involving the lingual muscles. Causes of tongue protrusion dystonia include tardive dystonia, posthypoxic dystonia, neuroacanthocytosis, pantothenate kinase-associated neurodegeneration, and Lesch-Nyhan syndrome. METHOD:We summarize three children with pantothenate kinase-associated neurodegeneration and tongue protrusion dystonia. All three patients underwent careful neurological examination, brain magnetic ... Read more >>

Pediatr. Neurol. (Pediatric neurology)
[2019, :]

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Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis.

Yoshiaki Nishida, Masayuki Nakamura, Yuka Urata, Kei Kasamo, Hanae Hiwatashi, Izumi Yokoyama, Masahiro Mizobuchi, Kotaro Sakurai, Yasushi Osaki, Yukari Morita, Masako Watanabe, Kenji Yoshida, Kiyomi Yamane, Natsuki Miyakoshi, Ryouichi Okiyama, Takehiro Ueda, Noritaka Wakasugi, Yuji Saitoh, Takashi Sakamoto, Yuji Takahashi, Ken Shibano, Hideki Tokuoka, Atsushi Hara, Kazunari Monma, Katsuhisa Ogata, Keita Kakuda, Hideki Mochizuki, Takeo Arai, Manabu Araki, Takeshi Fujii, Kazuto Tsukita, Haruhi Sakamaki-Tsukita, Akira Sano,

Objective:To identify mutations in vacuolar protein sorting 13A (VPS13A) for Japanese patients with suspected chorea-acanthocytosis (ChAc). Methods:We performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the VPS13A gene, and chorein Western blotting of erythrocyte ghosts. As the results of the analysis, 17 patients were ... Read more >>

Neurol Genet (Neurology. Genetics)
[2019, 5(3):e332]

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Cortico-subthalamic Coherence in a Patient With Dystonia Induced by Chorea-Acanthocytosis: A Case Report.

Chunyan Cao, Peng Huang, Tao Wang, Shikun Zhan, Wei Liu, Yixin Pan, Yiwen Wu, Hongxia Li, Bomin Sun, Dianyou Li, Vladimir Litvak,

The subthalamic nucleus (STN) is a common target for deep brain stimulation (DBS) treatment in Parkinson's disease (PD) but much less frequently targeted for other disorders. Here we report the results of simultaneous local field potential (LFP) recordings and magnetoencephalography (MEG) in a single patient who was implanted bilaterally in ... Read more >>

Front Hum Neurosci (Frontiers in Human Neuroscience)
[2019, 13:163]

Cited: 1 time

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