Publications by authors named "David S Lynch"

30Publications

GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy.

Ann Neurol 2020 09 8;88(3):641-642. Epub 2020 Jul 8.

Department of Neuromuscular Diseases, Institute of Neurology, University College, London, UK.

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September 2020

How to diagnose difficult white matter disorders.

Pract Neurol 2020 Aug 20;20(4):280-286. Epub 2020 May 20.

Department of Neuromuscular Disease, UCL Institute of Neurology and the National Hospital for Neurology & Neurosurgery, London, UK.

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August 2020

Monogenic small vessel diseases - rare but still important.

Nat Rev Neurol 2020 Aug;16(8):407-408

Inherited White Matter Disorders Group, National Hospital for Neurology and Neurosurgery, Queen Square, University College Hospitals NHS Foundation Trust, London, UK.

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August 2020

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.

Neuromuscul Disord 2019 10 19;29(10):747-757. Epub 2019 Aug 19.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom. Electronic address:

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October 2019

Stem cell transplant arrests decline in case of CSF1R leukoencephalopathy.

J Neurol Neurosurg Psychiatry 2019 12 10;90(12):1306. Epub 2019 Aug 10.

Department of Neuromuscular Diseases and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK

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December 2019

mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.

Neurol Genet 2019 Feb 16;5(1):e306. Epub 2019 Jan 16.

Neurogenetics Unit (A.R.B.d.P., F.F., B.D.R.d.A., I.B., C.L., D.d.C.d.S., F.K.), Neurology Department, Hospital das Clínicas da Universidade de São Paulo, Brazil; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology, London, UK; Leonard Wolfson Experimental Neurology Centre (D.S.L., H.H.), UCL Institute of Neurology, London, UK; Human Genome and Stem Cell Research Center (U.S.M., L.I.M.-S., F.K.), Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, Brazil; and Neuroradiology Section (L.T.L.), Hospital das Clínicas da Universidade de São Paulo, Brazil.

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February 2019

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Front Neurol 2018 26;9:456. Epub 2018 Jun 26.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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June 2018

loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Ann Clin Transl Neurol 2018 02 22;5(2):216-221. Epub 2018 Jan 22.

Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom.

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February 2018

Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to mutations.

Neurol Genet 2017 Oct 22;3(5):e188. Epub 2017 Sep 22.

Department of Molecular Neuroscience (D.S.L., J.H., N.W.W., H.H., H.P.-F.), UCL Institute of Neurology, London, UK; MRC Toxicology Unit (S.H.Y.L., L.M.M.), Leicester, UK; Reta Lila Weston Institute of Neurological Studies (A.J.N.), UCL Institute of Neurology, London, UK; and Neurogenetics Laboratory (H.H.), National Hospital for Neurology and Neurosurgery, London, UK.

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October 2017

Homozygous mutation in causing distal vacuolar myopathy and motor neuropathy.

Neurol Genet 2017 Aug 6;3(4):e168. Epub 2017 Jul 6.

MRC Centre for Neuromuscular Diseases (E.B., A.M.R., J.C.B., M.G.H., J.L.H., M.M.R., E.M.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., A.M.P., M.G.H., H.H., J.L.H.), and Division of Neuropathology (J.L.H.), UCL Institute of Neurology, London; Department of Neurology (M.S.), The Royal London Hospital; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, UK.

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August 2017

Brainstem phenotype of cathepsin A-related arteriopathy with strokes and leukoencephalopathy.

Neurol Genet 2017 Aug 6;3(4):e165. Epub 2017 Jul 6.

Dementia Research Centre (Y.T.H., J.D.W.), Department of Neurodegenerative Disease (A.G.B.T.), Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology, and UCL Ear Institute (D.-E.B.), University College London; Lysholm Department of Neuroradiology (R.L., I.D.) and Department of Clinical and Experimental Epilepsy (S.H.E.), National Hospital for Neurology and Neurosurgery, London; and Department of Neurology (N.B.), Queen's Medical Centre, Nottingham, United Kingdom.

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August 2017

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Am J Hum Genet 2017 Jun;100(6):969-977

Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

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June 2017

Redefining the phenotype of ALSP and mutation-related leukodystrophy.

Neurol Genet 2017 Apr 15;3(2):e135. Epub 2017 Feb 15.

Lysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.

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April 2017

Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?

Am J Case Rep 2017 Jan 5;18:17-21. Epub 2017 Jan 5.

MRC Centre for Neuromuscular Diseases and Division of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, United Kingdom.

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January 2017

Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A.

Neurol Genet 2016 Oct 16;2(5):e101. Epub 2016 Aug 16.

Department of Molecular Neuroscience (D.S.L., N.W.W., H.H.), UCL Institute of Neurology; and Neurogenetics Laboratory (H.H.), National Hospital for Neurology & Neurosurgery, Queen Square, London.

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October 2016

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Brain 2016 07 23;139(Pt 7):1904-18. Epub 2016 May 23.

1 Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK 2 Alzheimer's Disease Research Centre, Department of Neurology, Harvard Medical School and Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA

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July 2016

Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia.

J Neurol 2016 Jun 30;263(6):1232-3. Epub 2016 Mar 30.

The National Hospital for Neurology, Neurosurgery and UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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June 2016

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

Eur J Hum Genet 2016 06 16;24(6):857-63. Epub 2015 Sep 16.

Department of Molecular Neuroscience, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.

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June 2016

Novel Kidins220/ARMS Splice Isoforms: Potential Specific Regulators of Neuronal and Cardiovascular Development.

PLoS One 2015 17;10(6):e0129944. Epub 2015 Jun 17.

Molecular Neuropathobiology Laboratory, Sobell Department of Motor Neuroscience & Movement Disorders, UCL Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.

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April 2016

A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings.

J Neurol Sci 2015 Aug 29;355(1-2):199-201. Epub 2015 May 29.

Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece.

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August 2015

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.

J Neurol Neurosurg Psychiatry 2016 May 2;87(5):512-9. Epub 2015 May 2.

Department of Molecular Neuroscience, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK.

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May 2016