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Front Neurol 2019 29;10:555. Epub 2019 May 29.

Honorary Senior Lecturer in Paediatric Neurology, Imperial College, London, United Kingdom.

Mutations in the gene have been implicated in the pathogenesis of early-onset Parkinson's disease. We present a case of movement disorder in a 4-year-old child from consanguineous parents and with a family history of Dopamine responsive dystonia, who was diagnosed with early-onset Parkinson's disease based on initial identification of a pathogenic mutation. However, the evolution of the child's clinical picture was unusually rapid, with a preponderance of pyramidal rather than extrapyramidal symptoms, leading to re-investigation of the case with further imaging and genetic sequencing. Read More

Parkinsonism Relat Disord 2019 08 3;65:277-278. Epub 2019 Jun 3.

Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.

Front Syst Neurosci 2018 27;12:28. Epub 2018 Jun 27.

Yerkes National Primate Research Center, Emory University, Atlanta, GA, United States.

Striatal cholinergic dysfunction is a common phenotype associated with various forms of dystonia in which anti-cholinergic drugs have some therapeutic benefits. However, the underlying substrate of striatal cholinergic defects in dystonia remain poorly understood. In this study, we used a recently developed knock-in mouse model of dopamine-responsive dystonia (DRD) with strong symptomatic responses to anti-cholinergic drugs, to assess changes in the prevalence and morphology of striatal cholinergic interneurons (ChIs) in a model of generalized dystonia. Read More

Pract Neurol 2015 Oct 4;15(5):340-5. Epub 2015 Jun 4.

Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK.

The clinical spectrum of dopamine-responsive dystonias (DRDs) has expanded over the last decade to comprise several distinct disorders. At the milder end of the clinical spectrum is the autosomal-dominant guanosine triphosphate cyclohydrolase deficiency syndrome (GTPCH-DRD), and at the more severe end is the much less common autosomal recessive tyrosine hydroxylase deficiency syndrome (TH-DRD), with intermediate forms in between. Understanding the pathophysiology of DRDs can help in their optimal diagnosis and management. Read More

JIMD Rep 2015 26;24:109-13. Epub 2015 May 26.

Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

Sepiapterin reductase (SR) deficiency is a rare autosomal recessively inherited error of tetrahydrobiopterin (BH4) biosynthesis, resulting in disturbed dopaminergic and serotonergic neurotransmission. The clinical phenotype is characterized by dopa-responsive movement disorders including muscular hypotonia, dystonia, and parkinsonism. Due to the rarity of the disease, the phenotype of SR deficiency is far from being completely understood. Read More

Mol Biosyst 2014 Dec 11;10(12):3101-10. Epub 2014 Sep 11.

Department of Plant Sciences, School of Life Sciences, University of Hyderabad, Hyderabad 500046, India.

L-Dopa has been used to increase dopamine concentrations in the treatment of Parkinson's disease and dopamine-responsive dystonia. The binding interaction between L-dopa (phytochemical) and human serum albumin (HSA) under simulated physiological conditions was investigated by spectroscopic and molecular modeling methods. The results revealed that L-dopa caused fluorescence emission quenching of HSA through a static quenching procedure and the binding constant obtained was 2. Read More

Mov Disord Clin Pract 2014 Sep 6;1(3):154-160. Epub 2014 Jun 6.

Movement Disorders Section, Neuroscience Department Raul Carrea Institute for Neurological Research (FLENI) Buenos Aires Argentina.

Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified according to genetic subtype and collectively known as SCAs. In a few SCAs, movement disorders can be the most frequent extracerebellar sign. The aim of this article is to perform a systematic review of movement disorders frequency and characteristics in ADCAs. Read More

Can J Neurol Sci 2003 Mar;30 Suppl 1:S34-44

Unité des Troubles du Mouvement André-Barbeau, Centre Hospitalier de l'Université de Montréal, Montreal, QC, Canada.

Dystonia is a syndrome of sustained muscular contractions with numerous underlying etiologies. This review examines the varied phenomenology of dystonias, its evolving classification including recent genetic data as well as its clinical investigation and treatment. Although age of onset, anatomical distribution and family history are key elements of the investigation of dystonia, classification increasingly relies on etiologic and genetic criteria. Read More