Neuroacanthocytosis

Walker, Ruth H.; Jung, Hans H.; Danek, Adrian

doi:10.1016/b978-0-444-52014-2.00007-0

Cited by 36 publications

(24 citation statements)

References 93 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Chorea Acanthocytosis (ChAc) is a rare neurodegenerative disease that affects 500-1000 persons worldwide (OMIM ID: 200150) [1]. It is part of the group of neuroacanthocytosis syndromes, which include McLeod syndrome, Huntington disease-like syndrome 2 and pantothenate kinase-associated neurodegeneration.…”

Section: Introductionmentioning

confidence: 99%

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

Glaß

Neumann

Pal

et al. 2020

IJMS

View full text Add to dashboard Cite

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 as well over the course of the disease. Animal studies as well as studies on human erythrocytes suggest Lyn-kinase inhibition as valuable novel opportunity to treat ChAc. In order to investigate the peripheral neuropathy aspect, we analyzed induced pluripotent stem cell derived midbrain/hindbrain cell cultures from ChAc patients in vitro. We observed dendritic microtubule fragmentation. Furthermore, by using in vitro live cell imaging, we found a reduction in the number of lysosomes and mitochondria, shortened mitochondria, an increase in retrograde transport and hyperpolarization as measured with the fluorescent probe JC-1. Deep phenotyping pointed towards a proximal axonal deterioration as the primary axonal disease phenotype. Interestingly, pharmacological interventions, which proved to be successful in different models of ChAc, were ineffective in treating the observed axonal phenotypes. Our data suggests that treatment of this multifaceted disease might be cell type and/or neuronal subtype specific, and thus necessitates precision medicine in this ultra-rare disease.

show abstract

Section: Introductionmentioning

confidence: 99%

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

Glaß

Neumann

Pal

et al. 2020

IJMS

View full text Add to dashboard Cite

show abstract

“…Neuropsychiatric complications, such as obsessive compulsive disorders and psychosis, are common. 92 Therapy is symptomatic to reduce chorea. …”

Section: Mcleod Syndromementioning

confidence: 99%

Movement Disorders in Systemic Diseases

Poewe

Djamshidian

2015

Neurologic Clinics

View full text Add to dashboard Cite

“…Neuroacanthocytosis (NA) syndromes encompass a group of rare diseases characterized by the presence of “thorny” red blood cells (acanthocytes) in peripheral blood smear and neurodegeneration of the basal ganglia, along with hyperkinetic movement, seizures, cognitive impairment, and neuropsychiatric manifestations (Walker et al, 2011). Chorea-acanthocytosis (ChAc, OMIM 200150) occupies the main entity of this disease group which also includes McLeod syndrome (MLS), Huntington’s disease-like 2 (HDL2) and, more rarely, pantothenate kinase-associated neurodegeneration (PKAN) (Walker et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

“…Chorea-acanthocytosis (ChAc, OMIM 200150) occupies the main entity of this disease group which also includes McLeod syndrome (MLS), Huntington’s disease-like 2 (HDL2) and, more rarely, pantothenate kinase-associated neurodegeneration (PKAN) (Walker et al, 2011). From a perspective of genotype, ChAc mainly follows an autosomal recessive (AR) inheritance pattern (Danek et al, 2012), and the causative gene is vacuolar protein sorting 13A ( VPS13A ), a large gene consisting of 73 exons located in chromosome 9q21 (Walker et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review

Shen

Liu

et al. 2017

Front. Aging Neurosci.

View full text Add to dashboard Cite

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome characterized by hyperkinetic movements, seizures, cognitive impairment, neuropsychiatric symptoms, elevated serum biochemical indicators and acanthocytes detection in peripheral blood smear. Vacuolar protein sorting 13A (VPS13A) gene mutations have been proven to be genetically responsible for the pathogenesis of ChAc. Herein, based on the typical clinical symptoms and neuroimaging features, we present two suspected ChAc cases which are further genetically confirmed by four novel VPS13A gene mutations. Nevertheless, the sharp contrast between the population base and published ChAc reports implies that ChAc is considerably underdiagnosed in China. Therefore, we conclude several suggestive features and propose a diagnostic path of ChAc from a clinical, genetic and neuroimaging perspective, aiming to facilitate the diagnosis and management of ChAc in China.

show abstract

Neuroacanthocytosis

Cited by 36 publications

References 93 publications

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

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

Movement Disorders in Systemic Diseases

Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review

Contact Info

Product

Resources

About