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  1. Article ; Online: Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

    Saffari, Afshin / Ebrahimi-Fakhari, Darius

    Movement disorders : official journal of the Movement Disorder Society

    2024  Volume 38, Issue 5, Page(s) 911–913

    MeSH term(s) Humans ; Spastic Paraplegia, Hereditary/genetics ; Spastin/genetics
    Chemical Substances SPAST protein, human (EC 5.6.1.1) ; Spastin (EC 3.6.4.3)
    Language English
    Publishing date 2024-04-23
    Publishing country United States
    Document type Letter ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 607633-6
    ISSN 1531-8257 ; 0885-3185
    ISSN (online) 1531-8257
    ISSN 0885-3185
    DOI 10.1002/mds.29384
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Emerging therapies for childhood-onset movement disorders.

    Vogt, Lindsey / Quiroz, Vicente / Ebrahimi-Fakhari, Darius

    Current opinion in pediatrics

    2024  Volume 36, Issue 3, Page(s) 331–341

    Abstract: Purpose of review: We highlight novel and emerging therapies in the treatment of childhood-onset movement disorders. We structured this review by therapeutic entity (small molecule drugs, RNA-targeted therapeutics, gene replacement therapy, and ... ...

    Abstract Purpose of review: We highlight novel and emerging therapies in the treatment of childhood-onset movement disorders. We structured this review by therapeutic entity (small molecule drugs, RNA-targeted therapeutics, gene replacement therapy, and neuromodulation), recognizing that there are two main approaches to treatment: symptomatic (based on phenomenology) and molecular mechanism-based therapy or 'precision medicine' (which is disease-modifying).
    Recent findings: We highlight reports of new small molecule drugs for Tourette syndrome, Friedreich's ataxia and Rett syndrome. We also discuss developments in gene therapy for aromatic l-amino acid decarboxylase deficiency and hereditary spastic paraplegia, as well as current work exploring optimization of deep brain stimulation and lesioning with focused ultrasound.
    Summary: Childhood-onset movement disorders have traditionally been treated symptomatically based on phenomenology, but focus has recently shifted toward targeted molecular mechanism-based therapeutics. The development of precision therapies is driven by increasing capabilities for genetic testing and a better delineation of the underlying disease mechanisms. We highlight novel and exciting approaches to the treatment of genetic childhood-onset movement disorders while also discussing general challenges in therapy development for rare diseases. We provide a framework for molecular mechanism-based treatment approaches, a summary of specific treatments for various movement disorders, and a clinical trial readiness framework.
    MeSH term(s) Child ; Humans ; Deep Brain Stimulation ; Friedreich Ataxia/therapy ; Friedreich Ataxia/genetics ; Genetic Therapy/methods ; Movement Disorders/therapy ; Precision Medicine/methods ; Rett Syndrome/genetics ; Rett Syndrome/therapy ; Tourette Syndrome/therapy ; Tourette Syndrome/genetics
    Language English
    Publishing date 2024-04-04
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 1049374-8
    ISSN 1531-698X ; 1040-8703
    ISSN (online) 1531-698X
    ISSN 1040-8703
    DOI 10.1097/MOP.0000000000001354
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Book ; Thesis: Differential roles of the ubiquitin-proteasome-system and the autophagy-lysosomal-pathway in the degradation of alpha-synuclein in vivo

    Ebrahimi-Fakhari, Darius

    implications for Parkinson's disease and other neurodegenerative diseases

    2012  

    Author's details vorgelegt von Darius Ebrahimi-Fakhari
    Language English
    Size IX, 190 S. : Ill., graph. Darst.
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Heidelberg, Univ., Diss., 2013
    HBZ-ID HT017823167
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2013 E 1006 order for loan Magazin

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  4. Article ; Online: Childhood-onset hereditary spastic paraplegia and its treatable mimics.

    Ebrahimi-Fakhari, Darius / Saffari, Afshin / Pearl, Phillip L

    Molecular genetics and metabolism

    2021  Volume 137, Issue 4, Page(s) 436–444

    Abstract: Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common "mimics" of cerebral palsy. Early detection of these heterogenous genetic disorders can inform genetic ... ...

    Abstract Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common "mimics" of cerebral palsy. Early detection of these heterogenous genetic disorders can inform genetic counseling, anticipatory guidance, and improve outcomes, particularly where specific treatments exist. The diagnosis relies on clinical pattern recognition, biochemical testing, neuroimaging, and increasingly next-generation sequencing-based molecular testing. In this short review, we summarize the clinical and molecular understanding of: 1) childhood-onset and complex forms of hereditary spastic paraplegia (SPG5, SPG7, SPG11, SPG15, SPG35, SPG47, SPG48, SPG50, SPG51, SPG52) and, 2) the most common inborn errors of metabolism that present with phenotypes that resemble hereditary spastic paraplegia.
    MeSH term(s) Child ; Humans ; Spastic Paraplegia, Hereditary/diagnosis ; Spastic Paraplegia, Hereditary/genetics ; Spastic Paraplegia, Hereditary/metabolism ; Phenotype ; Retinal Degeneration ; High-Throughput Nucleotide Sequencing ; Metabolism, Inborn Errors ; Mutation ; Proteins/genetics
    Chemical Substances SPG11 protein, human ; Proteins
    Language English
    Publishing date 2021-06-24
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1418518-0
    ISSN 1096-7206 ; 1096-7192
    ISSN (online) 1096-7206
    ISSN 1096-7192
    DOI 10.1016/j.ymgme.2021.06.006
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.

    Ebrahimi-Fakhari, Darius

    Neuropediatrics

    2017  Volume 49, Issue 1, Page(s) 18–25

    Abstract: Autophagy is a fundamental and conserved intracellular pathway that mediates the degradation of macromolecules and organelles in lysosomes. Proper autophagy function is important for central nervous system development and neuronal function. Over the last ...

    Abstract Autophagy is a fundamental and conserved intracellular pathway that mediates the degradation of macromolecules and organelles in lysosomes. Proper autophagy function is important for central nervous system development and neuronal function. Over the last 5 years, several single gene disorders of the autophagy pathway have emerged:
    MeSH term(s) Autophagy/physiology ; Child ; Developmental Disabilities/etiology ; Developmental Disabilities/genetics ; Humans ; Metabolism, Inborn Errors/complications ; Metabolism, Inborn Errors/genetics ; Metabolism, Inborn Errors/pathology ; Metabolism, Inborn Errors/therapy ; Neurodegenerative Diseases/etiology ; Neurodegenerative Diseases/genetics ; Proteins/genetics
    Chemical Substances Proteins
    Language English
    Publishing date 2017-11-07
    Publishing country Germany
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/s-0037-1608652
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 728: Show issues Location:
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  6. Article: Blended Phenotype of Prader-Willi Syndrome and HSP-

    Kunta, Avaneesh R / Jueng, Jeremy / Jordan, Catherine / Kojic, Jasna / Mo, Alisa / Ebrahimi-Fakhari, Darius

    Neurology. Genetics

    2022  Volume 8, Issue 6, Page(s) e200041

    Abstract: Objective: Uniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a presentation of Prader-Willi syndrome (PWS) and progressive neurologic symptoms was caused by uniparental ... ...

    Abstract Objective: Uniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a presentation of Prader-Willi syndrome (PWS) and progressive neurologic symptoms was caused by uniparental isodisomy, a detailed clinical and molecular characterization was performed.
    Methods: A combination of clinical, molecular, and imaging data was included in this study.
    Results: We present the case of a 12-year-old boy with a blended phenotype of PWS and hereditary spastic paraplegia type 11 (HSP-
    Discussion: This case highlights that atypical clinical features in patients with well-described imprinting disorders should lead to investigations for recessive conditions caused by variants in genes that localize to the region of homozygosity, including autosomal recessive forms of HSP.
    Language English
    Publishing date 2022-11-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2818607-2
    ISSN 2376-7839
    ISSN 2376-7839
    DOI 10.1212/NXG.0000000000200041
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  7. Article ; Online: De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.

    Alecu, Julian E / Saffari, Afshin / Jordan, Catherine / Srivastava, Siddharth / Blackstone, Craig / Ebrahimi-Fakhari, Darius

    Human molecular genetics

    2022  Volume 32, Issue 1, Page(s) 93–103

    Abstract: Pathogenic variants in ATL1 are a known cause of autosomal-dominantly inherited hereditary spastic paraplegia (HSP-ATL1, SPG3A) with a predominantly 'pure' HSP phenotype. Although a relatively large number of patients have been reported, no genotype- ... ...

    Abstract Pathogenic variants in ATL1 are a known cause of autosomal-dominantly inherited hereditary spastic paraplegia (HSP-ATL1, SPG3A) with a predominantly 'pure' HSP phenotype. Although a relatively large number of patients have been reported, no genotype-phenotype correlations have been established for specific ATL1 variants. Confronted with five children carrying de novo ATL1 variants showing early, complex and severe symptoms, we systematically investigated the molecular and phenotypic spectrum of HSP-ATL1. Through a cross-sectional analysis of 537 published and novel cases, we delineate a distinct phenotype observed in patients with de novo variants. Guided by this systematic phenotyping approach and structural modelling of disease-associated variants in atlastin-1, we demonstrate that this distinct phenotypic signature is also prevalent in a subgroup of patients with inherited ATL1 variants and is largely explained by variant localization within a three-dimensional mutational cluster. Establishing genotype-phenotype correlations, we find that symptoms that extend well beyond the typical pure HSP phenotype (i.e. neurodevelopmental abnormalities, upper limb spasticity, bulbar symptoms, peripheral neuropathy and brain imaging abnormalities) are prevalent in patients with variants located within this mutational cluster.
    MeSH term(s) Humans ; Cross-Sectional Studies ; DNA Mutational Analysis ; GTP-Binding Proteins/genetics ; Membrane Proteins/genetics ; Mutation ; Pedigree ; Phenotype ; Spastic Paraplegia, Hereditary/genetics ; Spastic Paraplegia, Hereditary/pathology
    Chemical Substances GTP-Binding Proteins (EC 3.6.1.-) ; Membrane Proteins ; ATL1 protein, human (EC 3.6.1.-)
    Language English
    Publishing date 2022-08-04
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/ddac182
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    Zs.A 3469: Show issues Location:
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  8. Article ; Online: Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants.

    Gable, Dustin L / Mo, Alisa / Estrella, Elicia / Saffari, Afshin / Ghosh, Partha S / Ebrahimi-Fakhari, Darius

    American journal of medical genetics. Part A

    2022  Volume 188, Issue 12, Page(s) 3531–3534

    Abstract: Bi-allelic loss-of-function variants in Von Willebrand factor type A (VWA1) were recently discovered to lead to an early onset motor neuropathy or neuromyopathy. What makes this discovery particularly notable is the high frequency of one of the VWA1 ( ... ...

    Abstract Bi-allelic loss-of-function variants in Von Willebrand factor type A (VWA1) were recently discovered to lead to an early onset motor neuropathy or neuromyopathy. What makes this discovery particularly notable is the high frequency of one of the VWA1 (NM_022834.5) founder variants, c.62_71dup (p.Gly25ArgfsTer74), which nears 0.01% in European populations, and suggests that there may be a wide spectrum of disease features and severity. Here, we report two cases from nonconsanguineous families in North America that presented in early childhood with lower extremity weakness and prominent foot deformities, and were found to carry bi-allelic variants in VWA1. We draw focus to upper motor neuron signs and abnormal gait phenotypes as presenting symptoms in VWA1-related disorder and expand the clinical and molecular spectrum.
    MeSH term(s) Child, Preschool ; Humans ; Alleles ; Phenotype ; Loss of Heterozygosity ; Motor Neurons ; Gait/genetics ; Extracellular Matrix Proteins
    Chemical Substances VWA1 protein, human ; Extracellular Matrix Proteins
    Language English
    Publishing date 2022-08-17
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62953
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  9. Article ; Online: A special issue on childhood-onset movement disorders.

    Ebrahimi-Fakhari, Darius / Münchau, Alexander / Stamelou, Maria

    Movement disorders : official journal of the Movement Disorder Society

    2019  Volume 34, Issue 5, Page(s) 595–597

    MeSH term(s) Cerebral Palsy/diagnosis ; Child ; Clinical Decision-Making ; Diagnosis, Differential ; Humans ; Lysosomal Storage Diseases/complications ; Lysosomal Storage Diseases/diagnosis ; Lysosomal Storage Diseases/genetics ; Lysosomal Storage Diseases/therapy ; Metabolism, Inborn Errors/complications ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/genetics ; Metabolism, Inborn Errors/therapy ; Movement Disorders/diagnosis ; Movement Disorders/etiology ; Movement Disorders/genetics ; Movement Disorders/therapy
    Language English
    Publishing date 2019-04-02
    Publishing country United States
    Document type Editorial ; Introductory Journal Article
    ZDB-ID 607633-6
    ISSN 1531-8257 ; 0885-3185
    ISSN (online) 1531-8257
    ISSN 0885-3185
    DOI 10.1002/mds.27663
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  10. Article ; Online: Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls.

    Afshar-Saber, Wardiya / Chen, Cidi / Teaney, Nicole A / Kim, Kristina / Yang, Ziqin / Gasparoli, Federico M / Ebrahimi-Fakhari, Darius / Buttermore, Elizabeth D / Pin-Fang Chen, Ivy / Pearl, Phillip L / Sahin, Mustafa

    Stem cell research

    2024  Volume 77, Page(s) 103424

    Abstract: Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) is an ultra-rare autosomal recessive neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. Here, we report the generation and characterization of human induced ... ...

    Abstract Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) is an ultra-rare autosomal recessive neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. Here, we report the generation and characterization of human induced pluripotent stem cells (hiPSCs) derived from fibroblasts of three unrelated SSADHD patients - one female and two males with the CRISPR-corrected isogenic controls. These individuals are clinically diagnosed and are being followed in a longitudinal clinical study.
    Language English
    Publishing date 2024-04-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2024.103424
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