Semin Neurol 2008; 28(2): 205-211
DOI: 10.1055/s-2008-1062265
© Thieme Medical Publishers

Amyotrophic Lateral Sclerosis from Bench to Bedside

Catherine Lomen-Hoerth1
  • 1Department of Neurology, University of California, San Francisco, San Francisco, California
Further Information

Publication History

Publication Date:
19 March 2008 (online)

ABSTRACT

Amyotrophic lateral sclerosis (ALS) is a progressive disease for which there are currently no significant treatments to alter the fatal outcome. The cause of the disease is still elusive, except in familial cases where significant advances have been made in identifying new genetic causes. ALS is a relatively rare disease affecting ~1 in 100,000 people equally across geographic and ethnic distributions. It is a difficult disease to diagnose, and there are many mimics of ALS. Overlap with dementia may provide new clues to the etiology and treatment. There have been many advances in symptomatic treatments and improvements in the quality of life for ALS patients due to technological advancements.

REFERENCES

  • 1 Rowland L P. Diagnosis of amyotrophic lateral sclerosis.  J Neurol Sci. 1998;  160(suppl 1) S6-S24
  • 2 Bruijn L I, Miller T M, Cleveland D W. Unraveling the mechanisms involved in motor neuron degeneration in ALS.  Annu Rev Neurosci. 2004;  27 723-749
  • 3 Boillee S, Vande Velde C, Cleveland D W. ALS: a disease of motor neurons and their nonneuronal neighbors.  Neuron. 2006;  52(1) 39-59
  • 4 Brooks B R, Miller R G, Swash M, Munsat T L. World Federation of Neurology Research Group on Motor Neuron Diseases . El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis.  Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;  1(5) 293-299
  • 5 Murphy J, Henry R, Lomen-Hoerth C. Establishing subtypes of the continuum of frontal lobe impairment in amyotrophic lateral sclerosis.  Arch Neurol. 2007;  64(3) 330-334
  • 6 Olney R K, Murphy J, Forshew D et al.. The effects of executive and behavioral dysfunction on the course of ALS.  Neurology. 2005;  65(11) 1774-1777
  • 7 Kwong L K, Neumann M, Sampathu D M, Lee V M, Trojanowski J Q. TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease.  Acta Neuropathol. 2007;  114 63-70
  • 8 Mackenzie I R, Bigio E H, Ince P G et al.. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.  Ann Neurol. 2007;  61(5) 427-434
  • 9 Miller R G, Rosenberg J A, Gelinas D F et al.. Practice parameter: the care of the patient with amyotrophic lateral sclerosis (an evidence-based review). Report of the Quality Standards Subcommittee of the American Academy of Neurology: ALS Practice Parameters Task Force.  Neurology. 1999;  52(7) 1311-1323
  • 10 Forshew D A, Bromberg M B. A survey of clinicians' practice in the symptomatic treatment of ALS.  Amyotroph Lateral Scler Other Motor Neuron Disord. 2003;  4(4) 258-263
  • 11 Kurt A, Nijboer F, Matuz T, Kübler A. Depression and anxiety in individuals with amyotrophic lateral sclerosis: epidemiology and management.  CNS Drugs. 2007;  21(4) 279-291
  • 12 Rabkin J G, Albert S M, Del Bene M L et al.. Prevalence of depressive disorders and change over time in late-stage ALS.  Neurology. 2005;  65(1) 62-67
  • 13 Neary D, Snowden J S, Mann D M. Cognitive change in motor neurone disease/amyotrophic lateral sclerosis (MND/ALS).  J Neurol Sci. 2000;  180(1–2) 15-20
  • 14 Rosen D R, Siddique T, Patterson D et al.. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.  Nature. 1993;  362(6415) 59-62
  • 15 Hadano S, Hand C K, Osuga H et al.. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.  Nat Genet. 2001;  29(2) 166-173
  • 16 Hand C K, Khoris J, Salachas F et al.. A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.  Am J Hum Genet. 2002;  70(1) 251-256
  • 17 Chen Y Z, Bennett C L, Huynh H M et al.. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).  Am J Hum Genet. 2004;  74(6) 1128-1135
  • 18 Hentati A, Ouahchi K, Pericak-Vance M A et al.. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers.  Neurogenetics. 1998;  2(1) 55-60
  • 19 Ruddy D M, Parton M J, Al-Chalabi A et al.. Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.  Am J Hum Genet. 2003;  73(2) 390-396
  • 20 Sapp P C, Hosler B A, McKenna-Yasek D et al.. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.  Am J Hum Genet. 2003;  73(2) 397-403
  • 21 Nishimura A L, Mitne-Neto M, Silva H C et al.. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.  Am J Hum Genet. 2004;  75(5) 822-831
  • 22 Hosler B A, Siddique T, Sapp P C et al.. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22.  JAMA. 2000;  284(13) 1664-1669
  • 23 Wilhelmsen K C, Forman M S, Rosen H J et al.. 17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions.  Arch Neurol. 2004;  61(3) 398-406
  • 24 Morita M, Al-Chalabi A, Andersen P M et al.. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia.  Neurology. 2006;  66(6) 839-844
  • 25 Münch C, Sedlmeier R, Meyer T et al.. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.  Neurology. 2004;  63(4) 724-726
  • 26 Münch C, Rosenbohm A, Sperfeld A D et al.. Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.  Ann Neurol. 2005;  58(5) 777-780
  • 27 Greenway M J, Andersen P M, Russ C et al.. ANG mutations segregate with familial and “sporadic” amyotrophic lateral sclerosis.  Nat Genet. 2006;  38(4) 411-413
  • 28 Hutton M, Lendon C L, Rizzu P et al.. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17.  Nature. 1998;  393(6686) 702-705

Catherine Lomen-HoerthM.D. Ph.D. 

Director, ALS Center at UCSF, Department of Neurology, University of California, San Francisco

350 Parnassus Avenue, Suite 500, San Francisco, CA 94117

Email: catherine.lomen-hoerth@ucsf.edu

    >