Darius Ebrahimi-Fakhari, MD, PhD
Director, Movement Disorders Program; Neurologist, Department of Neurology
Assistant Professor of Neurology, Harvard Medical School
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Darius Ebrahimi-Fakhari, MD, PhD
Director, Movement Disorders Program; Neurologist, Department of Neurology
Assistant Professor of Neurology, Harvard Medical School
Medical Services
Languages
English
Farsi
German
Education
Graduate School
Ruprecht-Karls-University Heidelberg
2013
Heidelberg
Germany
Medical School
Ruprecht-Karls-University Heidelberg
2013
Heidelberg
Germany
Internship
Pediatrics
Heidelberg University Hospital
2014
Heidelberg
Germany
Residency
Pediatrics
Boston Combined Residency Program (BCRP)
2018
Boston
MA
Residency
Child Neurology
Boston Children's Hospital & Harvard Neurology Program
2021
Boston
MA
Fellowship
Movement Disorders
Boston Children's Hospital
2022
Boston
MA
Certifications
American Board of Psychiatry and Neurology (Child and Adolescent Neurology)
Professional History
Dr. Ebrahimi-Fakhari is a board-certified Child Neurologist with special expertise in neurogenetic diseases, neurodegenerative diseases and movement disorders. He serves as the Director of the Movement Disorders Program at Boston Children's Hospital.
As a physician-scientist dedicated to patient-centered translational research, his goal is to facilitate clinical trial readiness and to develop molecular therapies. His clinical research covers gene discovery and natural history studies. In the lab, his team is developing platforms for high-throughput small molecule and genetic screens in patient-derived neurons to identify therapeutic targets for neurological disorders in children. In his clinical practice, Dr. Ebrahimi-Fakhari cares for children with movement disorders and neurodegenerative disease. He is an advocate for families with rare diseases and serves this community clinically and scientifically.
Approach to Care
My most important teachers are my patients and their families. Caring for children with serious neurological diseases taught me humility, compassion, patience and resilience. I take pride in the trust that our patients put in us — they have often come a long way. As a physician-scientist, my goal is to provide compassionate care at the forefront of medicine and science.
Publications
HPDL Variant Type Correlates With Clinical Disease Onset and Severity. View Abstract
ap4b1 -/- zebrafish demonstrate morphological and motor abnormalities. View Abstract
Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated. View Abstract
Arrayed CRISPR/Cas9 Loss-Of-Function Screen in a Neuronal Model of Adaptor Protein Complex 4 Deficiency Identifies Modulators of ATG9A Trafficking. View Abstract
The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia. View Abstract
DBSMatchMaker: Connecting Clinicians Globally for Deep Brain Stimulation in Rare Diseases. View Abstract
Heterozygous variants in AP4S1 are not associated with a neurological phenotype. View Abstract
Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome. View Abstract
Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series. View Abstract
STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy. View Abstract
Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series. View Abstract
An update on autophagy disorders. View Abstract
Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia. View Abstract
Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47. View Abstract
The GENESIS database and tools: A decade of discovery in Mendelian genomics. View Abstract
Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. View Abstract
Juvenile-onset Huntington's disease - Spectrum and evolution of presenting movement disorders. View Abstract
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes. View Abstract
Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia. View Abstract
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. View Abstract
Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies. View Abstract
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. View Abstract
Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls. View Abstract
Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus. View Abstract
Emerging therapies for childhood-onset movement disorders. View Abstract
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia. View Abstract
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. View Abstract
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. View Abstract
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia. View Abstract
High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia. View Abstract
Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies. View Abstract
Deep brain stimulation for medically refractory status dystonicus in UBA5-related disorder. View Abstract
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. View Abstract
Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. View Abstract
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. View Abstract
Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics. View Abstract
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder. View Abstract
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations. View Abstract
Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy. View Abstract
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. View Abstract
Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants. View Abstract
Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis. View Abstract
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update. View Abstract
Social Deficits and Cerebellar Degeneration in Purkinje Cell Scn8a Knockout Mice. View Abstract
Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis. View Abstract
AP-4-mediated axonal transport controls endocannabinoid production in neurons. View Abstract
Mendelian etiologies identified with whole exome sequencing in cerebral palsy. View Abstract
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases. View Abstract
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. View Abstract
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. View Abstract
Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course. View Abstract
Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia. View Abstract
Startle Epilepsy Triggered By Maternal Cough. View Abstract
Childhood-onset hereditary spastic paraplegia and its treatable mimics. View Abstract
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. View Abstract
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50). View Abstract
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. View Abstract
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. View Abstract
Correction: p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. View Abstract
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. View Abstract
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. View Abstract
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. View Abstract
Expansion of the genetic landscape of ERLIN2-related disorders. View Abstract
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. View Abstract
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). View Abstract
Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders and Parental Stress: Findings from a National, Prospective TSC Surveillance Study. View Abstract
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. View Abstract
Correction to: Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. View Abstract
Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy. View Abstract
A special issue on childhood-onset movement disorders. View Abstract
Movement Disorders in Treatable Inborn Errors of Metabolism. View Abstract
Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. View Abstract
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. View Abstract
Resident and Fellow Section in Neuropediatrics. View Abstract
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. View Abstract
Abnormal mTOR Activation in Autism. View Abstract
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. View Abstract
Clinical and genetic characterization of AP4B1-associated SPG47. View Abstract
Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know. View Abstract
[Stroke in children and adolescents]. View Abstract
p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. View Abstract
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases. View Abstract
Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose. View Abstract
Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force. View Abstract
Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. View Abstract
Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons. View Abstract
Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex. View Abstract
Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. View Abstract
Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic! View Abstract
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells. View Abstract
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. View Abstract
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. View Abstract
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). View Abstract
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. View Abstract
The evolving spectrum of PRRT2-associated paroxysmal diseases. View Abstract
Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. View Abstract
The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex. View Abstract
The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation. View Abstract
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. View Abstract
Tuberous sclerosis complex. View Abstract
Autism and the synapse: emerging mechanisms and mechanism-based therapies. View Abstract
An 8-year old boy with continuous spikes and waves during slow sleep presenting with positive onconeuronal antibodies. View Abstract
Child Neurology: PRRT2-associated movement disorders and differential diagnoses. View Abstract
Parkinson's disease: A disorder of axonal mitophagy? View Abstract
Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features. View Abstract
International electives in the final year of German medical school education--a student's perspective. View Abstract
Chronic treatment with novel small molecule Hsp90 inhibitors rescues striatal dopamine levels but not a-synuclein-induced neuronal cell loss. View Abstract
Modeling Parkinson's disease in a dish--a story of yeast and men. View Abstract
Molecular chaperones and protein folding as therapeutic targets in Parkinson's disease and other synucleinopathies. View Abstract
Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases. View Abstract
Restoring impaired protein metabolism in Parkinson's disease--TFEB-mediated autophagy as a novel therapeutic target. View Abstract
Autophagy and neurodegeneration - genetic findings in SENDA syndrome, a subtype of neurodegeneration with brain iron accumulation, provide a novel link. View Abstract
Direct detection of alpha synuclein oligomers in vivo. View Abstract
Proteotoxicity and cardiac dysfunction. View Abstract
Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk. View Abstract
Molecular chaperones and co-chaperones in Parkinson disease. View Abstract
Protein degradation pathways in Parkinson's disease: curse or blessing. View Abstract
Alpha-synuclein aggregation involves a bafilomycin A 1-sensitive autophagy pathway. View Abstract
Alpha-synuclein's degradation in vivo: opening a new (cranial) window on the roles of degradation pathways in Parkinson disease. View Abstract
Distinct roles in vivo for the ubiquitin-proteasome system and the autophagy-lysosomal pathway in the degradation of a-synuclein. View Abstract
Molecular chaperones in Parkinson's disease--present and future. View Abstract
Studying protein degradation pathways in vivo using a cranial window-based approach. View Abstract
Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome. View Abstract
Locations