Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
J Inherit Metab Dis. 2021 Jan 14. doi: 10.1002/jimd.12360. Online ahead of print. ABSTRACT Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging from mild infantile hypotonia, movement disorders to early infantile severe encephalopathy. Neuroimaging has been reported as non-specific. We systematically analyzed brain MRIs in order to characterize and better understand […]
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity
Mov Disord. 2021 Mar;36(3):690-703. doi: 10.1002/mds.28362. Epub 2020 Nov 5. ABSTRACT BACKGROUND: Genetic defects of monoamine neurotransmitters are rare neurological diseases amenable to treatment with variable response. They are major causes of early parkinsonism and other spectrum of movement disorders including dopa-responsive dystonia. OBJECTIVES: The objective of this study was to conduct proteomic studies in […]
Failure to thrive – an overlooked manifestation of KMT2B-related dystonia: a case presentation
BMC Neurol. 2020 Jun 16;20(1):246. doi: 10.1186/s12883-020-01798-x. ABSTRACT BACKGROUND: KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel […]
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. ABSTRACT BACKGROUND: Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH4 deficiencies, apart from […]
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review
Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28. ABSTRACT Cerebellar ataxia is a hallmark of coenzyme Q10 (CoQ10) deficiency associated with COQ8A mutations. We present four patients, one with novel COQ8A pathogenic variants all with early, prominent handwriting impairment, dystonia and only mild ataxia. To better define the phenotypic spectrum and course […]
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes
Ann Clin Transl Neurol. 2018 Jul 17;5(8):996-1010. doi: 10.1002/acn3.597. eCollection 2018 Aug. ABSTRACT Paroxysmal movement disorders encompass varied motor phenomena. Less recognized features and wide phenotypic and genotypic heterogeneity are impediments to straightforward molecular diagnosis. We describe a family with episodic ataxia type 1, initially mis-characterized as paroxysmal dystonia to illustrate this diagnostic challenge. We […]