HOME PRODUCTS SERVICES COMPANY CONTACT FAQ

Hereditary Spastic Paraplegia

Subscribe to New Research on Hereditary Spastic Paraplegia

A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)

Also Known As:

Spastic Paraplegia, Hereditary; Autosomal Dominant Hereditary Spastic Paraplegia; Autosomal Dominant Spastic Paraplegia Hereditary; Autosomal Recessive Hereditary Spastic Paraplegia; Autosomal Recessive Spastic Paraplegia, Hereditary; HMSN Type V; HMSN V (Hereditary Motor and Sensory Neuropathy Type V); Hereditary Autosomal Dominant Spastic Paraplegia; Hereditary Autosomal Recessive Spastic Paraplegia; Hereditary Motor-Sensory Neuropathy with Pyramidal Signs; Hereditary Spastic Paraplegia, Autosomal Recessive; Hereditary X-Linked Recessive Spastic Paraplegia; Hereditary, Spastic Paraplegia, Autosomal Dominant; Hereditary, Spastic Paraplegia, X-Linked Recessive; Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia; Paraplegia, Spastic, Hereditary; Spastic Paraplegia, Autosomal Dominant, Hereditary; Spastic Paraplegia, Autosomal Recessive, Hereditary; Spastic Paraplegia, Hereditary, Autosomal Dominant; Spastic Paraplegia, Hereditary, Autosomal Recessive; Spastic Paraplegia, Hereditary, X-Linked Recessive; Spastic Paraplegia, X-Linked Recessive, Hereditary; Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy; Type V Hereditary Motor and Sensory Neuropathy; X-linked Recessive Hereditary Spastic Paraplegia; Hereditary Motor Sensory Neuropathy with Pyramidal Signs; Hereditary Spastic Paraplegias; Hereditary X Linked Recessive Spastic Paraplegia; Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia; Paraplegia, Hereditary Spastic; Paraplegias, Hereditary Spastic; Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy; Spastic Paraplegias, Hereditary; Type V, HMSN; X linked Recessive Hereditary Spastic Paraplegia; X-Linked, Spastic Paraplegia, Hereditary

Networked: 187 relevant articles (5 outcomes, 9 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Paraplegia (Spastic Paraplegia)
2.	Atrophy
3.	Muscle Spasticity (Spastic)
4.	Mental Retardation (Idiocy)
5.	Spinocerebellar Ataxias (Spinocerebellar Ataxia)

Experts

1.	Blackstone, Craig: 12 articles (05/2015 - 12/2003)
2.	Stevanin, Giovanni: 9 articles (08/2015 - 11/2007)
3.	Brice, Alexis: 8 articles (08/2015 - 11/2007)
4.	Reid, Evan: 8 articles (08/2012 - 11/2002)
5.	Durr, Alexandra: 7 articles (08/2015 - 11/2007)
6.	Züchner, Stephan: 6 articles (01/2015 - 08/2006)
7.	Zhu, Peng-Peng: 6 articles (11/2014 - 12/2003)
8.	Rugarli, Elena I: 6 articles (01/2008 - 06/2004)
9.	Mochel, Fanny: 5 articles (08/2015 - 06/2009)
10.	Schöls, Ludger: 5 articles (01/2015 - 01/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Spastic Paraplegia:

1.	Baclofen FDA LinkGeneric 04/01/2011 - "Compared with pretreatment values, there was an improvement in clinical efficacy, but the baclofen dose needed for hereditary spastic paraplegia (HSP) was significantly smaller than that in other diseases. " 08/01/2014 - "We study the effectiveness and safety of intrathecal baclofen therapy for the treatment of spasticity and gait improvement in patients suffering from hereditary spastic paraplegia. " 06/01/2015 - "To show the benefits of a continuous intrathecal baclofen (ITB) test infusion in a patient with hereditary spastic paraplegia (HSP), with an improved gait performance after ITB pump implantation. " 06/01/2015 - "Improved gait performance in a patient with hereditary spastic paraplegia after a continuous intrathecal baclofen test infusion and subsequent pump implantation: a case report." 08/01/2014 - "Intrathecal baclofen can offer an improvement in spasticity and in the walking performance in patients suffering from hereditary spastic paraplegia. "
2.	Type A Botulinum Toxins (Botulinum A Toxin)FDA Link 02/01/2015 - "Botulinum toxin type-A treatment and subsequent muscle stretching of the calves improved comfortable gait velocity and reduced muscle tone in patients with hereditary spastic paraplegia, while preserving muscle strength. " 08/01/2010 - "Limited information is available on the use of botulinum toxin type A injections for children with hereditary spastic paraplegia. " 02/01/2015 - "Functional effects of botulinum toxin type-A treatment and subsequent stretching of spastic calf muscles: a study in patients with hereditary spastic paraplegia."
3.	Ursodeoxycholic Acid (Urso)FDA LinkGeneric 09/01/2014 - "The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 α-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5. On treatment with ursodeoxycholic acid (UDCA), his condition was worsening, but on chenodeoxycholic acid (CDCA), 15 mg/kg/d, he improved rapidly. "
4.	Chenodeoxycholic Acid (Chenix)FDA Link 09/01/2014 - "The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 α-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5. On treatment with ursodeoxycholic acid (UDCA), his condition was worsening, but on chenodeoxycholic acid (CDCA), 15 mg/kg/d, he improved rapidly. "
5.	Spastic paraplegia 17IBA 05/20/2008 - "To perform a clinical and genetic study of two large Italian families (RM-36 and RM-51) showing the cardinal clinical features of Silver syndrome (SS), a rare dominantly inherited form of hereditary spastic paraplegia (HSP) complicated by amyotrophy of the small hand muscles. " 09/01/2004 - "A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia." 05/20/2008 - "Silver syndrome: The complexity of complicated hereditary spastic paraplegia." 05/20/2008 - "Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4." 09/01/2004 - "Silver syndrome (SS) is a complicated form of hereditary spastic paraplegia associated with distal wasting of the small muscles of the hands. "
6.	Proteins (Proteins, Gene)IBA 01/01/2015 - "Strumpellin and Spartin, Hereditary Spastic Paraplegia Proteins, are Binding Partners." 11/01/2013 - "Finally, many proteins involved in shaping the ER network are mutated in the most common forms of hereditary spastic paraplegia, indicating a particular importance for proper ER morphology and distribution in large, highly-polarized cells such as neurons. " 08/01/2013 - "It is associated with two proteins that are mutated in patients with hereditary spastic paraplegia, SPG11 and SPG15. " 08/01/2013 - "Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15." 08/01/2012 - "Several causative genes for hereditary spastic paraplegia encode proteins with intramembrane hairpin loops that contribute to the curvature of the endoplasmic reticulum (ER), but the relevance of this function to axonal degeneration is not understood. "
7.	Mitochondrial Proteins (Mitochondrial Protein)IBA 09/01/2006 - "This study provides the first evidence of spartin subcellular localization and identifies it as the third mitochondrial protein implicated in hereditary spastic paraplegia. " 08/01/2006 - "Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31." 09/03/2004 - "In humans, mutations in the mitochondrial protein, Paraplegin, cause an autosomal form of hereditary spastic paraplegia with an enhanced sensitivity to oxidative stress. " 05/01/2004 - "Mutations in the SPG7 gene, encoding the mitochondrial protein paraplegin, were the first to be identified in autosomal recessive hereditary spastic paraplegia (ARHSP). " 10/01/1999 - "Friedreich's ataxia, hereditary spastic paraplegia, this is a result of a mutation of a nuclear gene encoding a mitochondrial protein, whilst in others, e.g. "
8.	Levodopa (L Dopa)FDA LinkGeneric 12/01/1993 - "This patient had a second cousin with probable hereditary spastic paraplegia (Strumpell's familiar spastic paraplegia) who had no benefit on a recent L-dopa trial. " 12/01/2012 - "Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11." 02/15/2011 - "Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism." 10/01/2004 - "Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum."
9.	Pontocerebellar Hypoplasia Type 1IBA 11/01/2014 - "We suggest that EXOSC3 mutations may present not only as pontocerebellar hypoplasia type 1, but also as a complicated form of hereditary spastic paraplegia without pontine hypoplasia or atrophy." 11/01/2014 - "We describe two pairs of siblings from a consanguineous family manifesting autosomal recessive hereditary spastic paraplegia caused by a novel mutation in the EXOSC3 gene, previously reported in pontocerebellar hypoplasia type 1. Clinical findings included delayed motor milestones, early-onset spastic paraplegia, variable cognitive disability, and cerebellar signs. " 11/01/2013 - "Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p.V80F mutation and a known p.D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1. This study confirms the involvement of RNA processing proteins in disorders with motor neuron and cerebellar degeneration overlapping with spinocerebellar ataxia 36 and rare forms of hereditary spastic paraplegia with cerebellar features. "
10.	RNA (Ribonucleic Acid)IBA 11/01/2013 - "Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p.V80F mutation and a known p.D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1. This study confirms the involvement of RNA processing proteins in disorders with motor neuron and cerebellar degeneration overlapping with spinocerebellar ataxia 36 and rare forms of hereditary spastic paraplegia with cerebellar features. "

Therapies and Procedures

1.	Ligation 01/01/2014 - "Direct sequencing and a multiplex ligation-dependent probe amplification assay were applied to detect the mutations of SPAST and ATL1 in 54 autosomal-dominant hereditary spastic paraplegia probands and 66 isolated cases. " 06/01/2011 - "We used multiplex ligation-dependent probe amplification, locus-specific array comparative genomic hybridization, and breakpoint DNA sequencing to identify and describe genomic rearrangements in three patients with a clinical presentation of hereditary spastic paraplegia. "
2.	Injections 01/30/2008 - "Botulinum neurotoxin type A injections reduce spasticity in mild to moderate hereditary spastic paraplegia--report of 19 cases." 08/01/2010 - "The authors conclude that botulinum toxin A injections to lower limbs of pediatric patients with hereditary spastic paraplegia result in prolonged functional improvement despite the progressive nature of the disease." 08/01/2010 - "This report includes 12 children with hereditary spastic paraplegia (mean age 4.8 +/- 2.5 years) who underwent 1 to 6 sessions of botulinum toxin A injections to the hamstrings, adductors and gastrocnemius muscles. " 08/01/2010 - "Limited information is available on the use of botulinum toxin type A injections for children with hereditary spastic paraplegia. "
3.	Drug Therapy (Chemotherapy) 07/01/2007 - "The genetics of hereditary spastic paraplegia and implications for drug therapy."
4.	Activities of Daily Living (ADL) 01/01/2015 - "Gait impairment, balance problems and falls have a negative impact on independence in ADL and quality of life of patients affected by Hereditary Spastic Paraplegia (HSP). "