Recent Research Articles (Since 2002)

Please visit PubMed to research articles published prior to 2002

Please visit Research to see a list of the known genes for PLS and HSP

PLS research articles
HSP research articles

PLS Research Articles

A case of presumptive primary lateral sclerosis with upper and lower motor neurone pathology
J Clin Neurosci. 2005 Aug;12(6):706-9
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16098753&dopt=Abstract

Alsin is partially associated with centrosome in human cells
Biochim Biophys Acta. 2005 Aug 15;1745(1):84-100
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16085057&dopt=Abstract

Motor Neuron Firing Dysfunction in Spastic Patients With Primary Lateral Sclerosis
J Neurophysiol 94: 919-927, 2005
http://jn.physiology.org/cgi/content/abstract/94/2/919

Fezl Is Required for the Birth and Specification of Corticospinal Motor Neurons
Neuron, Vol 47, 817-831, 15 September 2005
http://www.neuron.org/content/article/abstract?uid=PIIS0896627305007324

Motor neuron firing dysfunction in spastic patients with primary lateral sclerosis.
J Neurophysiol. 2005 Aug;94(2):919-27. Epub 2005 Apr 13.
PMID: 15829597 [PubMed - indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15829597&do%20pt=Abstract

Primary lateral sclerosis as a phenotypic manifestation of familial ALS
Neurology. 2005 May 24;64(10):1778-9.
PMID: 15911810 [PubMed - in process]
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15911810&do%20pt=Abstract

Recessive motor neuron diseases: mutations in the ALS2 gene and molecular pathogenesis for the upper motor neurodegeneration
Rinsho Shinkeigaku. 2004 Nov;44(11):792-4
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15651293&dopt=Abstract

Diffusion tensor imaging in the diagnosis of primary lateral sclerosis
J Magn Reson Imaging. 2004 Jan;19(1):34-9
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14696218&dopt=Abstract

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease.
Proc Natl Acad Sci U S A. 2003 Dec 10 [Epub ahead of print]
PMID: 14668431 [PubMed - as supplied by publisher]

The first nonsense mutation in ALSin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

Clin Genet. 2003 Sep;64(3):210-5

Amyotrophic lateral sclerosis and primary lateral sclerosis: evidence-based diagnostic evaluation of the upper motor neuron

Neuroimaging Clin N Am. 2003 May;13(2):307-26.

PMID: 13677809 [PubMed - in process]

Primary lateral sclerosis: A heterogeneous disorder composed of different subtypes?
Neurology. 2003 Apr 22;60(8):1258-1265.
PMID: 12707427 [PubMed - as supplied by publisher]

Corticomotoneuronal connections in primary lateral sclerosis (PLS).
Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Dec;3(4):190-8.
PMID: 12710508 [PubMed - in process]

Hereditary motor neuropathies and motor neuron diseases: which is which.
Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Dec;3(4):186-9.
PMID: 12710507 [PubMed - in process]

Primary lateral sclerosis: a rare upper-motor-predominant form of amyotrophic lateral sclerosis often accompanied by frontotemporal lobar degeneration with ubiquitinated neuronal inclusions? Report of an autopsy case and a review of the literature.
Acta Neuropathol (Berl). 2003 Jun;105(6):615-20.
PMID: 12734667 [PubMed - in process]

Degeneration of the corticospinal pathway in primary lateral sclerosis
Rev Neurol. 2003 Sep 1-15;36(9):898. Spanish. No abstract available.
PMID: 12717679 [PubMed - in process]

Infantile ascending hereditary spastic paralysis (IAHSP): Clinical features in 11 families.
Neurology. 2003 Feb 25;60(4):674-82.
PMID: 12601111

'Wine Glass' appearance: a unique MRI observation in a case of primary lateral sclerosis.
Neurol India. 2002 Sep;50(3):306-9.
PMID: 12391458 [PubMed - indexed for MEDLINE]

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
Am J Hum Genet. 2002 Sep;71(3):518-27.
PMID: 12145748 [PubMed - indexed for MEDLINE]

Serial MRI findings in a case of primary lateral sclerosis.
Neurology. 2002 Feb 26;58(4):647-9.
PMID: 11865149 [PubMed - indexed for MEDLINE]

HSP Research Articles

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1
Ann Neurol. 2005 Sep;58(3):423-9
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16130112&dopt=Abstract

Alsin is partially associated with centrosome in human cells
Biochim Biophys Acta. 2005 Aug 15;1745(1):84-100
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16085057&dopt=Abstract

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from the one observed in familial cases
J Med Genet. Published Online First: 31 July 2005
http://jmg.bmjjournals.com/cgi/content/abstract/jmg.2005.035311v1

Fezl Is Required for the Birth and Specification of Corticospinal Motor Neurons
Neuron, Vol 47, 817-831, 15 September 2005
http://www.neuron.org/content/article/abstract?uid=PIIS0896627305007324

Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia
Neuroradiology. 2005 Oct;47(10):730-4. Epub 2005 Sep 6
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16143870&dopt=Abstract

Traffic accidents: Molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias
Pharmacol Ther. 2005 Jul 6
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16005518&dopt=Abstract

The Troyer syndrome (SPG20) protein spartin interacts with Eps15
Biochem Biophys Res Commun. 2005 Sep 9;334(4):1042-8
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16036216&dopt=Abstract

The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules.
Curr Biol. 2005 Apr 12;15(7):650-5.
PMID: 15823537 [PubMed - indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15823537&do%20pt=Abstract

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.
Ann Neurol. 2005 May;57(5):730-7.
PMID: 15852396 [PubMed - indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15852396&do%20pt=Abstract

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
Annals of Neurology
Volume 57, Issue 4 , Pages 567 - 571
http://www3.interscience.wiley.com/cgi-bin/abstract/110432596/ABSTRACT

Large deletion involving the 5-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia
American Journal of Medical Genetics Part A Volume 133A, Issue 1 , Pages 13 - 17
http://www3.interscience.wiley.com/cgi-bin/abstract/109863103/ABSTRACT

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families
Human Mutation Volume 25, Issue 2 , Pages 135 - 141
http://www3.interscience.wiley.com/cgi-bin/abstract/109863905/ABSTRACT

The extent of axonal loss in the long tracts in hereditary spastic paraplegia
Neuropathol Appl Neurobiol. 2004 Dec;30(6):576-84
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15540998
 

Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia
Arch Neurol. 2004 Oct;61(10):1600-3
http://archneur.ama-assn.org/cgi/content/abstract/61/10/1600

The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B
Hum Mol Genet. 2005 Jan 1;14(1):19-38. Epub 2004 Nov 10
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15537668

Drosophila spastin regulates synaptic microtubule networks and is required for normal motor function
PLoS Biol. 2004 Dec;2(12):e429. Epub 2004 Nov 30
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15562320

Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene
Neurology. 2004 Aug 24;63(4):710-2
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15326248

Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon
Hum Mol Genet. 2004 Sep 15;13(18):2121-32. Epub 2004 Jul 21
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15269182

The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function
Curr Biol. 2004 Jul 13;14(13):1135-47
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15242610

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
Neurogenetics. 2004 Sep;5(3):157-64. Epub 2004 Jul 10
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15248095

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
Nat Genet. 2004 Mar;36(3):271-6. Epub 2004 Feb 22
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14981520&dopt=Abstract

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia
Brain. 2004 Sep;127(Pt 9):2148
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14985266&dopt=Abstract

Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia
Neurology. 2004 Feb 10;62(3):407-10
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14872021&dopt=Abstract

Clinical Progression and Genetic Analysis in Hereditary Spastic Paraplegia With Thin Corpus Callosum in Spastic Gait Gene 11 (SPG11)
Arch Neurol. 2004;61:117-121
http://archneur.ama-assn.org/cgi/content/abstract/61/1/117

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
Hum Mutat. 2004 Jan;23(1):98
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14695538&dopt=Abstract

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.
Ann Neurol. 2003 Dec;54(6):796-803.

PMID: 14681889 [PubMed - in process]

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.
Ann Neurol. 2003 Dec;54(6):748-59.
PMID: 14681884 [PubMed - in process]

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.
Arch Neurol. 2003 Dec;60(12):1768-71.
PMID: 14676054 [PubMed - in process]

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease.
Proc Natl Acad Sci U S A. 2003 Dec 10 [Epub ahead of print]
PMID: 14668431 [PubMed - as supplied by publisher]

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

Clin Genet. 2003 Sep;64(3):210-5

Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia.

Am J Hum Genet. 2003 Oct 16 [Epub ahead of print]

Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28.

Gene. 2003 Sep 18;314:113-20

The Hereditary Spastic Paraplegias - Nine Genes and Counting (pdf file)

Arch Neurol. 2003;60:1045-1049

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6).

Am J Hum Genet. 2003 Oct;73(4):967-71. Epub 2003 Sep 23
 

Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.

Hum Genet. 2003 Sep 16 [Epub ahead of print]

Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia.
Neurology. 2003 May 13;60(9):1529-32.
PMID: 12743246 [PubMed - in process]

Transcranial magnetiNeurophysiological findings in SPG4 patients differ from other types of spastic paraplegia.tion study in hereditary spastic paraparesis.
Eur Neurol. 2003;49(4):234-7.
PMID: 12736541 [PubMed - in process]

A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family.
J Neurol Sci. 2003 Jun 15;210(1-2):35-9.
PMID: 12736085 [PubMed - in process]

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.
Genomics. 2003 Apr;81(4):437-41.
PMID: 12676568 [PubMed - in process]

Investigation of mitochondrial function in hereditary spastic paraparesis.
Neuroreport. 2003 Mar 3;14(3):485-8.
PMID: 12634509 [PubMed - in process]

Infantile ascending hereditary spastic paralysis (IAHSP): Clinical features in 11 families.
Neurology. 2003 Feb 25;60(4):674-82.
PMID: 12601111 [PubMed - in process]

Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.
J Med Genet. 2003 Feb;40(2):81-6. Review.
PMID: 12566514 [PubMed - indexed for MEDLINE]

[Optic neuropathy in Strumpell-Lorrain disease: presentation of a clinical case and literature review]
Bull Soc Belge Ophtalmol. 2002;(286):9-14. Review. French.
PMID: 12564312 [PubMed - indexed for MEDLINE]

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.
Hum Mutat. 2003 Feb;21(2):170.
PMID: 12552568 [PubMed - indexed for MEDLINE]

An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred.
Ann Neurol. 2003 Jan;53(1):144-5. No abstract available.
PMID: 12509863 [PubMed - in process]

SPG3A: An additional family carrying a new atlastin mutation.
Neurology. 2002 Dec 24;59(12):2002-5.
PMID: 12499504 [PubMed - indexed for MEDLINE]

A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14.
Neurology. 2002 Dec 24;59(12):1905-9.
PMID: 12499481 [PubMed - indexed for MEDLINE]

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus.
Hum Mol Genet. 2003 Jan 1;12(1):71-8.
PMID: 12490534 [PubMed - in process]

Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.
J Med Genet. 2002 Dec;39(12):e77. No abstract available.
PMID: 12471215 [PubMed - indexed for MEDLINE]

A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity.
Acta Neurol Scand. 2002 Dec;106(6):387-91.
PMID: 12460147 [PubMed - indexed for MEDLINE]

Hereditary spastic paraplegia.
Neurol Clin. 2002 Aug;20(3):711-26. Review.
PMID: 12432827 [PubMed - indexed for MEDLINE]

Clinical and genetic study of a large Italian family linked to SPG12 locus.
Neurology. 2002 Nov 12;59(9):1395-401.
PMID: 12427890 [PubMed - indexed for MEDLINE]

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.
J Neurol. 2002 Oct;249(10):1413-6.
PMID: 12382159 [PubMed - indexed for MEDLINE]

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
Am J Hum Genet. 2002 Nov;71(5):1189-94.
PMID: 12355402 [PubMed - indexed for MEDLINE]

Is the transportation highway the right road for hereditary spastic paraplegia?
Am J Hum Genet. 2002 Nov;71(5):1009-16. Review.
PMID: 12355399 [PubMed - indexed for MEDLINE]

Hereditary spastic paraplegia with thin corpus callosum and cataract: a clinical description of two siblings.
Acta Neurol Scand. 2002 Oct;106(4):222-4.
PMID: 12225319 [PubMed - indexed for MEDLINE]

Further evidence for a fourth gene causing X-linked pure spastic paraplegia.
Am J Med Genet. 2002 Aug 1;111(2):152-6.
PMID: 12210342 [PubMed - indexed for MEDLINE]

A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.
J Hum Genet. 2002;47(9):473-7.
PMID: 12202986 [PubMed - indexed for MEDLINE]

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.
J Neurol Sci. 2002 Sep 15;201(1-2):65-9.
PMID: 12163196 [PubMed - indexed for MEDLINE]

Spastin gene mutation in Japanese with hereditary spastic paraplegia.
J Med Genet. 2002 Aug;39(8):e46. No abstract available.
PMID: 12161613 [PubMed - indexed for MEDLINE]

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
Am J Hum Genet. 2002 Sep;71(3):518-27.
PMID: 12145748 [PubMed - indexed for MEDLINE]

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
Nat Genet. 2002 Aug;31(4):347-8.
PMID: 12134148 [PubMed - indexed for MEDLINE]

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
Hum Mutat. 2002 Aug;20(2):127-32.
PMID: 12124993 [PubMed - indexed for MEDLINE]

Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.
Ann Neurol. 2002 Jun;51(6):794-5. No abstract available.
PMID: 12112092 [PubMed - indexed for MEDLINE]

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34.
Ann Neurol. 2002 Jun;51(6):681-5.
PMID: 12112072 [PubMed - indexed for MEDLINE]

Hereditary spastic paraplegia: the pace quickens.
Ann Neurol. 2002 Jun;51(6):669-72. No abstract available.
PMID: 12112070 [PubMed - indexed for MEDLINE]

A novel mutation in the spastin gene in a family with spastic paraplegia.
Neurosci Lett. 2002 May 31;325(1):57-61.
PMID: 12023066 [PubMed - indexed for MEDLINE]

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.
J Neurol. 2002 Feb;249(2):200-5.
PMID: 11985387 [PubMed - indexed for MEDLINE]

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.
Am J Hum Genet. 2002 May;70(5):1328-32.
PMID: 11898127 [PubMed - indexed for MEDLINE]

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.
Arch Neurol. 2002 Feb;59(2):281-6.
PMID: 11843700 [PubMed - indexed for MEDLINE]

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
Hum Mol Genet. 2002 Jan 15;11(2):153-63.
PMID: 11809724 [PubMed - indexed for MEDLINE]