Professor Henry Houlden

Telephone:

Email:

Location:

  • National Hospital for Neurology and Neurosurgery

GMC/GDC number:

4100784

Professional background

Dr Henry Houlden has clinical expertise in inherited neurological disorders, movement disorders such as multiple system atrophy, ataxia, leukodystrophy, epilepsy and paroxysmal conditions, spastic paraplegia and neuromuscular conditions.

He undertakes research laboratory works on neurogenetics and movement disorders with a particular interest in rare diseases that are adult or childhood-onset, such as multiple system atrophy (MSA), spinocerebellar ataxia and other movement disorders, inherited neuromuscular conditions and difficult to diagnose disorders. Particularly in diverse and underrepresented populations. We integrate new gene discovery with exome and genome sequencing identifying disease genes such as CANVAS, NARS1, NKX-6.2, SCA11, SCA15, GRIA2 and GAD1, with functional experimental validation in human tissue and other model systems.

Specialties

Research interests

I run a neurogenetics research group that are interested in all types of neurological condition. We are always happy to discuss this with clinicians, patiens and families. We are particularly interested in multiple system atrophy (MSA), ataxia and other neuromuscular and neuro-locomoter disorders such as hereditary spastic paraplegia (HSP), Charcot-Marie Tooth (CMT) disease , the channelopathies and myopathies such as IBM.

Publications

Selected publications

  • Charlotte J. Sumner, Constantin d’Ydewalle, Joe Wooley, Katherine A. Fawcett, Dena Hernandez, Alice R. Gardiner, Bernadett Kalmar, Robert H. Baloh, Michael Gonzalez, Stephan Züchner, Horia C. Stanescu, Robert Kleta, Ami Mankodi, David R. Cornblath, Kevin B. Boylan, Mary M. Reilly, Linda Greensmith, Andrew B. Singleton, Matthew B. Harms, Alexander M. Rossor and Henry Houlden. Dominant mutation of FBXO38 causes distal spinal muscular atrophy with calf predominance. Under second review (09/13) American Journal of Human Genetics.
  • A. Reghan Foley, Manoj P. Menezes, Amelie Pandraud, Michael A. Gonzalez, Ahmad Al-Odaib, Alexander J. Abrams, Kumiko Sugano, Atsushi Yonezawa, Adnan Y. Manzur, et al and Henry Houlden. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, in press, 20/09/2013.
  • Kruer MC, Jepperson T, Dutta S, Steiner RD, Cottenie E, Sanford L, Merkens M, Russman BS, Blasco PA, Fan G, Pollock J, Green S, Woltjer RL, Mooney C, Kretzschmar D, Paisán-Ruiz C, Houlden H. Mutations in gamma adducin are associated with inherited cerebral palsy. Ann Neurol. 2013 Jul 9. doi:10.1002/ana.23971.
  • Hersheson J, Mencacci NE, Davis M, Macdonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H. Mutations in the autoregulatory domain of ?-tubulin 4a cause hereditary dystonia. Ann Neurol. 2013. doi: 10.1002/ana.23832.
  • Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Houlden H, Hentati F, Amouri R, Singleton AB. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet. 2013 Feb 7;92(2):245-51.
  • Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D et al, Houlden H. Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. Hum Mutat. 2012 Oct 19.
  • Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH et al and Houlden H. PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology. 2012 Nov 20;79(21):2115-2121.
  • Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simón-Sánchez J, Clayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain. 2012 Sep;135(Pt 9):2875-82.
  • Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H. Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology. 2012 Jul 10;79(2):127-31.
  • Koutsis G, Pandraud A, Polke JM, Wood NW, Panas M, Karadima G, Houlden H. Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease. Brain. 2012 Aug; 135 (Pt8):1-6.
  • Johnson JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB. Exome sequencing in Brown-Vialetto-van Laere syndrome. Am J Hum Genet. 2010 Oct 8;87(4):567-9.
  • Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol. 2010 Nov;68(5):611-8.
  • Singleton AB, Hardy J, Traynor BJ, Houlden H. Towards a complete resolution of the genetic architecture of disease. Trends Genet. 2010 Oct;26(10):438-42.
  • Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology. 2010 Mar 9;74(10):846-50.
  • Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet. 2010 Mar 12;86(3):485-9.
  • Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet. 2010 Feb;42(2):170-4.
  • Segarane B, Li A, Paudel R, Scholz S, Neumann J, Lees A, Revesz T, Hardy J, Mathias CJ, Wood NW, Holton J, Houlden H. Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy. Neurology. 2009 Mar 31;72(13):1185-6.
  • Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007 Dec;39(12):1434-6.
  • Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A et al. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature. 1998 Jun 18;393(6686):702-5.
  • Mullan M, Houlden H, Windelspecht M, Fidani L, Lombardi C, Diaz P, Rossor M, Crook R, Hardy J, Duff K.  A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene. Nat Genet. 1992 Dec;2(4):340-2.
  • Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J. Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature. 1991 Oct 31;353(6347):844-6.