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

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]

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]