Cargando…

Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association

MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The deficiency cause defect in the remethylation of homocysteine to methionine leading to increased blood levels of homocysteine. Hyperhomocysteinemia in infants cause seizures, hypotonia, apnoea, microcephaly, prog...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mahale, Rohan R., Gautam, Jyothi, Arunachal, Gautam, Alappati, Sandhya, Varghese, Nibu, Kovoor, Jennifer, Mailankody, Pooja, Padmanabha, Hansashree, Pavagada, Mathuranath
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706591/ https://www.ncbi.nlm.nih.gov/pubmed/35018185 http://dx.doi.org/10.4103/jpn.JPN_96_20

Ejemplares similares

Autosomal Dominant Cerebral Small Vessel Disease in HTRA1 Gene Mutation
por: Mahale, Rohan R., et al.
Publicado: (2021)

Spastic Paraplegia Type 8: A First Report from India
por: Mahale, Rohan, et al.
Publicado: (2023)

Hereditary Spastic Paraplegia due to LYST Gene Mutation: A Novel Causative Gene
por: Mahale, Rohan R., et al.
Publicado: (2023)

Parkinsonism, Olivary Hypertrophy and Cerebellar Atrophy with TTC19 Gene Mutation
por: Mahale, Rohan R., et al.
Publicado: (2021)

ADCY5-Related Dyskinesia: A Genetic Cause of Early-Onset Chorea-Report of Two Cases and a Novel Mutation
por: Padmanabha, Hansashree, et al.
Publicado: (2021)

Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia
por: Padmanabha, Hansashree, et al.
Publicado: (2021)

Postpartum Optic Neuropathy: Think of Myelin Oligodendrocyte Glycoprotein Immunoglobulin G-Associated Optic Neuritis - Report of Two Cases
por: Mahale, Rohan R., et al.
Publicado: (2021)

Levodopa Non-Responsive Parkinsonism in Tuberculous Cerebral Arteritis: A Rare Occurrence
por: Mahale, Rohan, et al.
Publicado: (2022)

Childhood-Onset Generalized Dystonia Due to NDUFA9 Gene Mutation: An Expansion of Mutations Causing Leigh’s Syndrome
por: Singh, Raviprakash, et al.
Publicado: (2023)

Upbeat Nystagmus in Late Onset Cerebellar Ataxia: Think of Anti-Glutamate Decarboxylase 65 Antibody-Associated Cerebellar Ataxia
por: Mahale, Rohan R., et al.
Publicado: (2021)

DYT30 due to VPS16 Mutation: An Etiology of Childhood-Onset Generalized Dystonia
por: Shashi, Sridhar, et al.
Publicado: (2023)

Pseudo-neonatal Adrenoleukodystrophy: A Rare Peroxisomal Disorder
por: Arora, Cheshta, et al.
Publicado: (2022)

Autoimmune Antibodies Positivity in Probable Sporadic Creutzfeldt–Jakob Disease: A Mini-Review of Literature
por: Anudeep, Davuluri Durga Srinivas, et al.
Publicado: (2023)

A Rare Case of Ataxia-Telangiectasia-Like Disorder With MRE11 Mutation
por: Mahale, Rohan R, et al.
Publicado: (2020)

ANCA-associated Vasculitic Neuropathy Following Anti-SARS-CoV-2 Vaccination: An Epiphenomenon or Causal Association?
por: Jha, Shreyashi, et al.
Publicado: (2023)

Kennedy's Disease: A Second Genetically Confirmed Report from India
por: Shah, Rutul, et al.
Publicado: (2021)

CSF1R Related Leukoencephalopathy - Rare Childhood Presentation of An Autosomal Dominant Microgliopathy!
por: Sriram, Neeharika, et al.
Publicado: (2022)

Granulomatous Panuveitis in Multiple Sclerosis: A Rare Occurrence
por: Shah, Rutul, et al.
Publicado: (2022)

Vascular Parkinsonism with Dystonia in Moyamoya Disease: An Expansion of Movement Disorder Phenomenology
por: Mahale, Rohan R., et al.
Publicado: (2022)

Cervical Dystonia with Cerebellar Ataxia in KCNA1 Mutation: A Phenotypic Expansion
por: Mahale, Rohan R., et al.
Publicado: (2022)

Longitudinally Extensive Transverse Myelitis with Optic Neuritis Related to Profound Biotinidase Deficiency: NMOSD Mimic!
por: Ravikumar, Nagaraj Angadi, et al.
Publicado: (2023)

Electroencephalography as a Diagnostic Aid in a Girl with Neuroregression and Stereotypies
por: Dhar, Debjyoti, et al.
Publicado: (2020)

COASY Protein-Associated Neurodegeneration: Report from India
por: Mahale, Rohan R., et al.
Publicado: (2023)

Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia
por: Wali, Gautam, et al.
Publicado: (2021)

Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs
por: Wali, Gautam, et al.
Publicado: (2023)

Hereditary Spastic Paraplegia: An Update
por: Meyyazhagan, Arun, et al.
Publicado: (2022)

Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review
por: Siow, Sue-Faye, et al.
Publicado: (2023)

N-Methyl-D-Aspartate Encephalitis our Experience with Diagnostic Dilemmas, Clinical Features, and Outcome
por: Chandra, Sadanandavalli R., et al.
Publicado: (2018)

Lipids in the Physiopathology of Hereditary Spastic Paraplegias
por: Darios, Frédéric, et al.
Publicado: (2020)

Movement disorders in hereditary spastic paraplegias
por: Pedroso, Jose Luiz, et al.
Publicado: (2023)

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations
por: Abrahamsen, Greger, et al.
Publicado: (2013)

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations
por: Abrahamsen, Greger, et al.
Publicado: (2015)

Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells
por: Wali, Gautam, et al.
Publicado: (2020)

Hereditary spastic paraplegia with thin corpus callosum
por: Raina, Sujeet, et al.
Publicado: (2009)

JASPAC: Japan Spastic Paraplegia Research Consortium
por: Koh, Kishin, et al.
Publicado: (2018)

Lysosome Function and Dysfunction in Hereditary Spastic Paraplegias
por: Edmison, Daisy, et al.
Publicado: (2021)

ER Morphology in the Pathogenesis of Hereditary Spastic Paraplegia
por: Sonda, Sonia, et al.
Publicado: (2021)

Lipid Droplets in the Pathogenesis of Hereditary Spastic Paraplegia
por: Tadepalle, Nimesha, et al.
Publicado: (2021)

Dysarthria in hereditary spastic paraplegia type 4
por: Jacinto-Scudeiro, Lais Alves, et al.
Publicado: (2022)

A New Reflex Sign in Spastic Paraplegia
Publicado: (1918)

Cannot write session to /tmp/vufind_sessions/sess_c2iitfmaom64ocp3c9hpbs70sc