Semin Neurol 2001; 21(2): 199-208
DOI: 10.1055/s-2001-15265
Copyright © 2001 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

Progressive Spastic Paraparesis: Hereditary Spastic Paraplegia and Its Relation to Primary and Amyotrophic Lateral Sclerosis

John K. Fink
  • Department of Neurology, University of Michigan and Geriatric Research Education and Care Center, Ann Arbor Veterans Affairs Medical Center, Ann Arbor, Michigan
Further Information

Publication History

Publication Date:
31 December 2001 (online)

ABSTRACT

The syndrome of insidiously progressive spastic weakness of both legs occurs in a number of etiologically distinct disorders including hereditary spastic paraplegia (HSP), primary lateral sclerosis (PLS), and sometimes in amyotrophic lateral sclerosis (ALS). This review summarizes the clinical and pathologic relationship between these disorders.

REFERENCES

  • 1 Strümpell A. Die primaere Seitenstrangsklerose (spastische Spinalparalyse).  Dtsch Z Nervenheilkd . 1904;  27 291-339
  • 2 Fink J K, Heiman-Patterson T, Bird T. Hereditary spastic paraplegia: advances in genetic research.  Neurology . 1996;  46 1507-1514
  • 3 Fink J K, Hedera P. Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation.  Semin Neurol . 1999;  19 301-310
  • 4 Harding A E. Classification of the hereditary ataxias and paraplegias.  Lancet . 1983;  1 1151-1155
  • 5 Hazan J, Fonknechten N, Mavel D. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.  Nat Genet . 1999;  23 296-303
  • 6 Hazan J, Fontaine B, Bruyn R PM. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.  Hum Mol Genet . 1994;  3 1569-1573
  • 7 DeMichele G, DeFusco M, Cavalcanti F. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3  Am J Hum Genet . 1998;  63 135-139
  • 8 Casari G, Fusco M, Ciarmatori S. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.  Cell . 1998;  93 973-983
  • 9 Woodward K, Kendall E, Vetrie D, Malcolm S. Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.  Am J Hum Genet . 1998;  63 207-217
  • 10 Hentati A. Contribution à l'étude des paraplégies spasmodiques et familiales pures (Strümpell-Lorrain) et associéd en Tunisie. Thesis for doctorate in Medicine, Faculté de Médecine de sfax, Tunisia, 1989
  • 11 Jouet M, Rosenthal A, Armstrong G. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.  Nat Genet . 1994;  7 402-407
  • 12 Behan W, Maia M. Strümpell's familial spastic paraplegia: genetics and neuropathology.  J Neurol Neurosurg Psychiatry . 1974;  37 8-20
  • 13 Harding A E. Hereditary spastic paraplegias.  Semin Neurol . 1993;  13 333-336
  • 14 Sack G H, Huether C A, Garg N. Familial spastic paraplegia: clinical and pathologic studies in a large kindred. Johns Hopkins Med J .  1978;  143 117-121
  • 15 Buge A, Escourolle R, Rancurel G, Gray F, Pertuiset B F. Strümpell-Lorrain's familial spasmodic paraplegia: anatomical and clinical review and report on a new case.  Rev Neurol (Paris) . 1979;  135 329-337
  • 16 Schwarz G A. Hereditary (familial) spastic paraplegia.  AMA Arch Neurol Psychiatry . 1952;  68 655-682
  • 17 Schwarz G A, Liu C N. Hereditary (familial) spastic paraplegia: further clinical and pathologic observations.  AMA Arch Neurol Psychiatry . 1956;  75 144-162
  • 18 Polo J M, Calleja J, Combarris O, Berciano J. Hereditary ``pure'' spastic paraplegia: a study of nine families.  J Neurol Neurosurg Psychiatry . 1993;  56 175-181
  • 19 Claus D, Waddy H M, Harding A E. Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study.  Ann Neurol . 1990;  28 43-49
  • 20 Pelosi L, Lanzillo B, Perretti A. Motor and somatosensory evoked potentials in hereditary spastic paraplegia.  J Neurol Neurosurg Psychiatry . 1991;  54 1099-1102
  • 21 Pedersen L, Trojaborg W. Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia.  Electroencephalogr Clin Neurophysiol . 1981;  52 283-297
  • 22 Uncini A, Treviso M, Basciani M, Gambi D. Strümpell's familial spastic paraplegia: an electrophysiological demonstration of selective central distal axonopathy.  Electroencephalogr Clin Neurophysiol . 1987;  66 132-136
  • 23 Dimitrijevic M R, Lenman J AR, Prevec T, Wheatly K. A study of posterior column function in familial spastic paraplegia.  J Neurol Neurosurg Psychiatry . 1982;  45 46-49
  • 24 Battistella P A, Suppiej A, Mandara V. Evoked potentials in familial spastic paraplegia: description of three brothers and review of the literature.  Giorn Neuropsi Evol . 1997;  17 201-212
  • 25 Mcleod J G, Morgan J A, Reye C. Electrophysiological studies in familial spastic paraplegia.  Neurol Neurosurg Psychiatry . 1993;  40 611-615
  • 26 Tedeschi G, Allocca S, DiCostanzo A. Multisystem involvement of the central nervous system in Strümpell's disease: a neurophysiological and neuropsychological study.  J Neurol Sci . 1991;  103 55-60
  • 27 Lizcano-Gil L A, Garcia-Cruz D, Bernal-Beltran M DP, Hernandez A. Association of late onset spastic paraparesis and dementia: probably an autosomal dominant form of complicated paraplegia.  Am J Med Genet . 1997;  68 1-6
  • 28 Heinzlef O, Paternotte C, Mahieux F. Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.  J Med Genet . 1998;  35 89-93
  • 29 Webb S, Coleman D, Byrne P. Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p.  Brain . 1998;  121 601-609
  • 30 Byrne P C, Webb S, McSweeney F. Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance.  Eur J Hum Genet . 1998;  6 275-282
  • 31 Reid E, Grayson C, Rubinsztein D C, Rogers M T, Rubinsztein J S. Subclinical cognitive impairment in autosomal dominant ``pure'' hereditary spastic paraplegia.  J Med Genet . 1999;  36 797-798
  • 32 Meierkord H, Nurnberg P, Mainz A. ``Complicated'' autosomal dominant familial spastic paraplegia is genetically distinct from ``pure'' forms.  Arch Neurol . 1997;  54 379-384
  • 33 Fink J K. Hereditary spastic paraplegia. In: Emery & Rimoin's Principles and Practice of Medical Genetics 4th ed. London: Harcourt Publishers 2001
  • 34 Cross H E, McKusick V A. The Troyer syndrome: a recessive form of spastic paraplegia with distal muscle wasting.  Arch Neurol . 1967;  16 473-485
  • 35 Farag T I, El-Badramany M H, Al-Sharkawy S. Troyer Syndrome: report of the first ``non-Amish'' sibship and review.  Am J Med Genet . 1994;  52 383-385
  • 36 McKusick V A. Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. In: Anonymous 11 ed. 1994
  • 37 Silver J R. Familial spastic paraplegia with amyotrophy of the hands.  Ann Hum Genet . 1966;  30 69-73
  • 38 Webb S, Patterson V, Hutchinson M. Two families with autosomal recessive spastic paraplegia, pigmented maculopathy and dementia.  J Neurol Neurosurg Psychiatry . 1997;  63 628-632
  • 39 Kjellin K, Stockholm M L. Familial spastic paraplegia with amyotrophy, oligophrenia, and central retinal degeneration.  Arch Neurol . 1959;  1 25-32
  • 40 Vazza G ZM, Boaretto F, Micaglio G F, Sartori V, Mostacciuolo M L. A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy SPG14, maps to chromosome 3q27-q28.  Am J Hum Genet . 2000;  67 504-509
  • 41 Seri M, Cusano R, Forabosco P. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.  Am J Hum Genet . 1999;  64 586-593
  • 42 Slavotinek A M, Pike M, Mills K, Hurst J A. Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?.  Am J Med Genet . 1996;  62 42-47
  • 43 Bruyn R P, Koelman J H, Troost D, deJong J M. Motor neuron disease (amyotrophic lateral sclerosis) arising from longstanding primary lateral sclerosis.  J Neurol Neurosurg Psychiatry . 1995;  58 742-744
  • 44 Erb W H. Spastic and syphilitic spinal paralysis.  Lancet . 2000;  2 969-974
  • 45 Fisher C M. Pure spastic paralysis of corticospinal origin.  Can J Neurol Sci . 1977;  4 251-258
  • 46 Younger D S, Chou S C, Hays A P. Primary lateral sclerosis: a clinical diagnosis reemerges.  Arch Neurol . 1988;  45 1304-1307
  • 47 Pringle C E, Hudson A J, Munoz D G. Primary lateral sclerosis: clinical features, neuropathology and diagnostic criteria.  Brain . 1992;  115 495-520
  • 48 Lerman-Sagie T, Filiano J, Smith D W, Korson M. Infantile onset of hereditary ascending spastic paralysis with bulbar involvement.  J Child Neurol . 1996;  11 54-57
  • 49 Siddique T, Chavis P, Yaghmour A. Familial childhood primary lateral sclerosis with associated gaze paresis.  Neuropediatrics . 1995;  26 313-319
  • 50 Saturen P. Familial spastic paraplegia of pure type with early onset in siblings.  Arch Phys Med Rehabil . 1975;  56 561
  • 51 Hentati A, Pericak-Vance M A, Lennon F. Linkage of the late onset autosomal dominant familial spastic paraplegia to chromosome 2p markers.  Hum Mol Genet . 1994;  3 1867-1871
  • 52 Fontaine B, Davoine C-S, Durr A. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.  Am J Hum Genet . 2000;  66 702-707
  • 53 Hedera P, Rainier S, Alvarado D. Novel locus for autosomal dominant hereditary spastic paraplegia on chromosome 8q.  Am J Hum Genet . 1999;  64 563-569
  • 54 Reid E, Dearlove A M, Osborn M, Rogers T, Rubinsztein D C. A locus for autosomal dominant ``pure'' hereditary spastic paraplegia maps to chromosome 19q13.  Am J Hum Genet . 2000;  66 728-732
  • 55 Reid E, Dearlove A M, Rhodes M, Rubinsztein D C. A new locus for autosomal dominant ``pure'' hereditary spastic paraplegia mapping to chromosome 12q13 and evidence for further genetic heterogeneity.  Am J Hum Genet . 1999;  65 757-763
  • 56 Hazan J, Lamy C, Melki J. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.  Nat Genet . 1993;  5 163-167
  • 57 Paternotte C, Rudnicki D, Fizames C. Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.  Genome Res . 1998;  8 1216-1227
  • 58 Fink J K, Wu C-TB, Jones S M. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q.  Am J Hum Genet . 1995;  56 188-192
  • 59 Hentati A, Pericack-Vance M A, Hung W-Y. Linkage of the ``pure'' recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.  Hum Genet . 1993;  53 1013
  • 60 Martinez-Murillo F, Kobayashi H, Pegoraro E. Genetic localization of a new locus for recessive spastic paraplegia to 15q13-15.  Neurology . 1999;  53 50-56
  • 61 Garner C C, Garner A, Huber G, Kozak C, Matus A. Molecular cloning of microtubule-associated protein 1 (MAP1A) and microtubule-associated protein 5 (MAP1B): identification of distinct genes and their differential expression in developing brain.  J Neurochem . 1990;  55 146-154
  • 62 Jouet M, Rosenthal A, Armstrong G. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.  Nat Genet . 1994;  7 402-407
  • 63 Kobayashi H, Hoffman E P, Marks H G. The rumpshaker mutation in spastic paraplegia.  Nat Genet . 1994;  7 351-352
  • 64 Saugier-Veber P, Munnich A, Bonneau D. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.  Nat Genet . 1994;  6 257-262
  • 65 Cambi F, Tang X M, Cordray P. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.  Neurology . 1996;  46 1112-1117
  • 66 Tamagaki A, Shima M, Tomita R. Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2  Am J Med Genet . 2000;  94 5-8
    >