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Related Research Units

Neurology Research

Research Overview

We study mitochondrial disorders, a large group of chronic disorders affecting mitochondria, the cellular machines that produce energy throughout the body. Our research is focused on the clinical presentation of children with mitochondrial disorders and their response to therapy with different medications and vitamins/supplements. 

Currently I am a principal investigator in a study examining the ability of the drug dichloroacetate (DCA) to treat children with mitochondrial disorders complicated by lactic acidemia, a condition in which excess lactate builds up in the blood and spinal fluid. DCA reduces lactate levels and thus has the potential to alleviate disease symptoms. I evaluate children in clinic, enroll them in the protocol and follow them in the Mitochondrial Program while they are being maintained on DCA.

I am also involved in evaluation and treatment of patients with rare neurometabolic disorders. We study their clinical presentations and develop protocols for the compassionate use of experimental drugs.  I am a principal investigator on the protocol of treatment of patients with citrate transporter deficiency with Triheptanoin. I am also a co-investigator on the protocol of the intrathecal infusions of cyclodextrine in one patient with Niemann Pick type C.

Research Background

Irina Anselm received her MD from St. Petersburg Pediatric Medical Academy. She completed an internship and residency in pediatrics at UMASS Medical Center and a fellowship in child neurology at Floating Hospital for Children at the New England Medical Center.

 

Education

Medical School

St. Petersburg Pediatric Medical Academy
1984 St. Petersburg Russia

Internship

St. Petersburg Pediatric Medical Academy
1985 St. Petersburg Russia

Internship

St. Petersburg Pediatric Medical Academy
1986 St. Petersburg Russia

Residency

University of Massachusetts Medical Center
1995 Worcester Russia

Fellowship

New England Medical Center
1998 Boston MA

Publications

  1. Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. JIMD Rep. 2022 Sep; 63(5):391-399. View Abstract
  2. Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease. EMBO Mol Med. 2021 09 07; 13(9):e14712. View Abstract
  3. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 04 19; 13(1):63. View Abstract
  4. Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. Am J Intellect Dev Disabil. 2020 11 01; 125(6):475-480. View Abstract
  5. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363. View Abstract
  6. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 04 02; 106(4):484-495. View Abstract
  7. First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants. Clin Genet. 2020 05; 97(5):793-794. View Abstract
  8. A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. Orphanet J Rare Dis. 2019 10 22; 14(1):232. View Abstract
  9. Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69. View Abstract
  10. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. View Abstract
  11. Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. Am J Med Genet A. 2018 12; 176(12):2768-2776. View Abstract
  12. 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 09; 125(1-2):118-126. View Abstract
  13. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155. View Abstract
  14. Response to Newman et al. Genet Med. 2017 12; 19(12). View Abstract
  15. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 12; 19(12). View Abstract
  16. Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation. Neuromuscul Disord. 2017 Sep; 27(9):848-851. View Abstract
  17. GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A. JIMD Rep. 2018; 38:61-65. View Abstract
  18. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a001560. View Abstract
  19. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab. 2017 03; 120(3):213-222. View Abstract
  20. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View Abstract
  21. Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:113. View Abstract
  22. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease. Cold Spring Harb Mol Case Stud. 2016 May; 2(3):a000786. View Abstract
  23. Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. J Child Neurol. 2016 07; 31(8):1027-35. View Abstract
  24. Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:107-111. View Abstract
  25. Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. J Child Neurol. 2016 Feb; 31(2):190-4. View Abstract
  26. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015 Sep; 17(9):689-701. View Abstract
  27. Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1. Clin Genet. 2015 Feb; 87(2):141-7. View Abstract
  28. Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. J Neuroophthalmol. 2014 Mar; 34(1):39-43. View Abstract
  29. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. View Abstract
  30. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013 Jul; 50(7):463-72. View Abstract
  31. Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I. Mol Genet Metab. 2012 Aug; 106(4):488-90. View Abstract
  32. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec; 155A(12):2956-63. View Abstract
  33. Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A. 2011 Jan; 155A(1):81-90. View Abstract
  34. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001. View Abstract
  35. A modern approach to the treatment of mitochondrial disease. Curr Treat Options Neurol. 2009 Nov; 11(6):414-30. View Abstract
  36. Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. Neurology. 2009 Aug 04; 73(5):400-1. View Abstract
  37. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8. View Abstract
  38. Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology. 2008 Apr 29; 70(18):1642-4. View Abstract
  39. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006 Oct 10; 67(7):1313; author reply 1313. View Abstract
  40. Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. Pediatr Neurol. 2006 Aug; 35(2):142-4. View Abstract
  41. X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis. 2006 Feb; 29(1):214-9. View Abstract
  42. Childhood primary angiitis of the central nervous system: two biopsy-proven cases. J Pediatr. 2004 Nov; 145(5):693-7. View Abstract
  43. Progressive intracranial vascular disease with strokes and seizures in a boy with progeria. J Child Neurol. 2001 Mar; 16(3):212-5. View Abstract

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