Professional background

Dr Lynch is a consultant neurologist at the National Hospital for Neurology and Neurosurgery. He sees patients with all types of neurological disease in his general neurology clinics, and he has a particular interest in patients with inherited disorders of white matter, also called leukodystrophies. He helped to develop and now leads the adult service of the NHS England Highly Specialist Service for Inherited White Matter Disorders, a national service which aims to provide high quality care for patients affected by these rare conditions.

  1. For general neurology queries only: Sandrao’, telephone 02034484166
  2. For queries related to inherited white matter disorders service:

Research interests

  • Inherited White Matter Disorders
  • Leukodystrophies
  • Neurogenetics


1: Budhdeo S, de Paiva ARB, Wade C, Lopes LCG, Della-Ripa B, Davagnanam I, Lucato L, Mummery CJ, Kok F, Houlden H, Werring DJ, Lynch DS. A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). J Neurol. 2022 Jul 29. doi: 10.1007/s00415-022-11302-9. Epub ahead of print. PMID: 35904593.

2: Papapetropoulos S, Pontius A, Finger E, Karrenbauer V, Lynch DS, Brennan M, Zappia S, Koehler W, Schoels L, Hayer SN, Konno T, Ikeuchi T, Lund T, Orthmann- Murphy J, Eichler F, Wszolek ZK. Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development. Front Neurol. 2022 Feb 3;12:788168. doi: 10.3389/fneur.2021.788168. PMID: 35185751; PMCID: PMC8850408.

3: Melo ES, Paiva ARB, de Amorim AD Jr, Lima de Carvalho JR Jr, Bezerra MER, van der Linden V, Lynch DS, Kok F. Extreme Clinical Variability Among Carriers of Pathogenic Variant in SSBP1. Mov Disord. 2022 Apr;37(4):879-881. doi: 10.1002/mds.28956. Epub 2022 Feb 10. PMID: 35142387.

4: Yau WY, Sullivan R, Chen Z, Lynch DS, Vandrovcova J, Wood NW, Houlden H. GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy. Ann Neurol. 2020 Sep;88(3):641-642. doi: 10.1002/ana.25818. Epub 2020 Jul 8. PMID: 32542757.

5: Williams T, Houlden H, Murphy E, John N, Fox NC, Schott JM, Adams M, Davagananam I, Chataway J, Lynch DS. How to diagnose difficult white matter disorders. Pract Neurol. 2020 Aug;20(4):280-286. doi: 10.1136/practneurol-2020-002530. Epub 2020 May 20. PMID: 32434903.

6: Werring DJ, Lynch DS. Monogenic small vessel diseases - rare but still important. Nat Rev Neurol. 2020 Aug;16(8):407-408. doi: 10.1038/s41582-020-0363-1. PMID: 32355255.

7: Bugiardini E, Khan AM, Phadke R, Lynch DS, Cortese A, Feng L, Gang Q, Pittman AM, Morrow JM, Turner C, Carr AS, Quinlivan R, Rossor AM, Holton JL, Parton M, Blake JC, Reilly MM, Houlden H, Matthews E, Hanna MG. Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre. Neuromuscul Disord. 2019 Oct;29(10):747-757. doi: 10.1016/j.nmd.2019.08.003. Epub 2019 Aug 19. PMID: 31561939.

8: Lynch DS, Houlden H. Stem cell transplant arrests decline in case of CSF1R leukoencephalopathy. J Neurol Neurosurg Psychiatry. 2019 Dec;90(12):1306. doi: 10.1136/jnnp-2019-321021. Epub 2019 Aug 10. PMID: 31401565.

9: de Paiva ARB, Lynch DS, Melo US, Lucato LT, Freua F, de Assis BDR, Barcelos I, Listik C, de Castro Dos Santos D, Macedo-Souza LI, Houlden H, Kok F. PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy. Neurol Genet. 2019 Jan 16;5(1):e306. doi: 10.1212/NXG.0000000000000306. PMID: 30697592; PMCID: PMC6340380.

10: Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J. Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era. J Neurol Neurosurg Psychiatry. 2019 May;90(5):543-554. doi: 10.1136/jnnp-2018-319481. Epub 2018 Nov 22. PMID: 30467211; PMCID: PMC6581077.

11: Melo US, Freua F, Lynch DS, Ripa BD, Tenorio RB, Saute JAM, de Souza Leite F, Kitajima J, Houlden H, Zatz M, Kok F. Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations. Clin Genet. 2018 Nov;94(5):482-483. doi: 10.1111/cge.13428. Epub 2018 Sep 10. PMID: 30198554.

12: Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F. A novel complex neurological phenotype due to a homozygous mutation in FDX2. Brain. 2018 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172. PMID: 30010796; PMCID: PMC6061701.

13: Bugiardini E, Morrow JM, Shah S, Wood CL, Lynch DS, Pitmann AM, Reilly MM, Houlden H, Matthews E, Parton M, Hanna MG, Straub V, Yousry TA. The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies. Front Neurol. 2018 Jun 26;9:456. doi: 10.3389/fneur.2018.00456. PMID: 29997562; PMCID: PMC6028608.

14: O'Connor E, Vandrovcova J, Bugiardini E, Chelban V, Manole A, Davagnanam I, Wiethoff S, Pittman A, Lynch DS, Efthymiou S, Marino S, Manzur AY, Roberts M, Hanna MG, Houlden H, Matthews E, Wood NW. Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy. J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1230-1232. doi: 10.1136/jnnp-2017-317581. Epub 2018 Feb 22. PMID: 29472272; PMCID: PMC6227798.

15: Lynch DS, Chelban V, Vandrovcova J, Pittman A, Wood NW, Houlden H. GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy. Ann Clin Transl Neurol. 2018 Jan 22;5(2):216-221. doi: 10.1002/acn3.522. PMID: 29468182; PMCID: PMC5817843.

16: Lynch DS, Loh SHY, Harley J, Noyce AJ, Martins LM, Wood NW, Houlden H, Plun- Favreau H. Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations. Neurol Genet. 2017 Sep 22;3(5):e188. doi: 10.1212/NXG.0000000000000188. PMID: 28955727; PMCID: PMC5610041.

17: Bugiardini E, Rossor AM, Lynch DS, Swash M, Pittman AM, Blake JC, Hanna MG, Houlden H, Holton JL, Reilly MM, Matthews E. Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy. Neurol Genet. 2017 Jul 6;3(4):e168. doi: 10.1212/NXG.0000000000000168. PMID: 28702508; PMCID: PMC5499975.

18: Hwang YT, Lakshmanan R, Davagnanam I, Thompson AGB, Lynch DS, Houlden H, Bajaj N, Eriksson SH, Bamiou DE, Warren JD. Brainstem phenotype of cathepsin A-related arteriopathy with strokes and leukoencephalopathy. Neurol Genet. 2017 Jul 6;3(4):e165. doi: 10.1212/NXG.0000000000000165. PMID: 28702507; PMCID: PMC5499977.

19: Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group, Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. Am J Hum Genet. 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009. PMID: 28575651; PMCID: PMC5473715.

20: Chelban V, Tucci A, Lynch DS, Polke JM, Santos L, Jonvik H, Groppa S, Wood NW, Houlden H. Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry. 2017 Aug;88(8):681-687. doi: 10.1136/jnnp-2017-315796. Epub 2017 Jun 1. PMID: 28572275; PMCID: PMC5537546.

21: Lynch DS, Houlden H. Letter re: Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy. Neurology. 2017 May 16;88(20):1978. doi: 10.1212/WNL.0000000000003948. PMID: 28507263.

22: Lynch DS, Rodrigues Brandão de Paiva A, Zhang WJ, Bugiardini E, Freua F, Tavares Lucato L, Macedo-Souza LI, Lakshmanan R, Kinsella JA, Merwick A, Rossor AM, Bajaj N, Herron B, McMonagle P, Morrison PJ, Hughes D, Pittman A, Laurà M, Reilly MM, Warren JD, Mummery CJ, Schott JM, Adams M, Fox NC, Murphy E, Davagnanam I, Kok F, Chataway J, Houlden H. Clinical and genetic characterization of leukoencephalopathies in adults. Brain. 2017 May 1;140(5):1204-1211. doi: 10.1093/brain/awx045. PMID: 28334938; PMCID: PMC5405235.

23: Lakshmanan R, Adams ME, Lynch DS, Kinsella JA, Phadke R, Schott JM, Murphy E, Rohrer JD, Chataway J, Houlden H, Fox NC, Davagnanam I. Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy. Neurol Genet. 2017 Feb 15;3(2):e135. doi: 10.1212/NXG.0000000000000135. PMID: 28243630; PMCID: PMC5312114.

24: Scalco RS, Lorenzoni PJ, Lynch DS, Martins WA, Jungbluth H, Quinlivan R, Becker J, Houlden H. Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? Am J Case Rep. 2017 Jan 5;18:17-21. doi: 10.12659/ajcr.900970. PMID: 28053302; PMCID: PMC5228759.

25: Lynch DS, Zhang WJ, Lakshmanan R, Kinsella JA, Uzun GA, Karbay M, Tüfekçioglu Z, Hanagasi H, Burke G, Foulds N, Hammans SR, Bhattacharjee A, Wilson H, Adams M, Walker M, Nicoll JA, Chataway J, Fox N, Davagnanam I, Phadke R, Houlden H. Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. JAMA Neurol. 2016 Dec 1;73(12):1433-1439. doi: 10.1001/jamaneurol.2016.2229. PMID: 27749956.

26: Lynch DS, Wood NW, Houlden H. Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A. Neurol Genet. 2016 Aug 16;2(5):e101. doi: 10.1212/NXG.0000000000000101. PMID: 27574708; PMCID: PMC4988466.

27: Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. Epub 2016 May 23. PMID: 27217339; PMCID: PMC4939695.

28: Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP. De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. Am J Hum Genet. 2016 Apr 7;98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015. PMID: 27058447; PMCID: PMC4833291.

29: Chelban V, Lynch DS, Houlden H, Wood N. Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia. J Neurol. 2016 Jun;263(6):1232-3. doi: 10.1007/s00415-016-8103-6. Epub 2016 Mar 30. PMID: 27025852.

30: Lynch DS, Koutsis G, Tucci A, Panas M, Baklou M, Breza M, Karadima G, Houlden H. Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. Eur J Hum Genet. 2016 Jun;24(6):857-63. doi: 10.1038/ejhg.2015.200. Epub 2015 Sep 16. PMID: 26374131; PMCID: PMC4688955.

31: Schmieg N, Thomas C, Yabe A, Lynch DS, Iglesias T, Chakravarty P, Schiavo G. Novel Kidins220/ARMS Splice Isoforms: Potential Specific Regulators of Neuronal and Cardiovascular Development. PLoS One. 2015 Jun 17;10(6):e0129944. doi: 10.1371/journal.pone.0129944. PMID: 26083449; PMCID: PMC4470590.

32: Koutsis G, Lynch DS, Tucci A, Houlden H, Karadima G, Panas M. 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 15;355(1-2):199-201. doi: 10.1016/j.jns.2015.05.031. Epub 2015 May 29. PMID: 26049658.

33: Lynch DS, Jaunmuktane Z, Sheerin UM, Phadke R, Brandner S, Milonas I, Dean A, Bajaj N, McNicholas N, Costello D, Cronin S, McGuigan C, Rossor M, Fox N, Murphy E, Chataway J, Houlden H. 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;87(5):512-9. doi: 10.1136/jnnp-2015-310788. Epub 2015 May 2. PMID: 25935893; PMCID: PMC4853550.

34: McLaughlin RL, Phukan J, McCormack W, Lynch DS, Greenway M, Cronin S, Saunders J, Slowik A, Tomik B, Andersen PM, Bradley DG, Jakeman P, Hardiman O. Angiogenin levels and ANG genotypes: dysregulation in amyotrophic lateral sclerosis. PLoS One. 2010 Nov 10;5(11):e15402. doi: 10.1371/journal.pone.0015402. PMID: 21085671; PMCID: PMC2978104.