Spastic paraplegia type 15 is part of a group of genetic disorders known as hereditary spastic paraplegias. Click on the link above to view the community for hereditary spastic paraplegia. The disease presents with progressive stiffness and contraction in the lower limbs. Hereditary spastic paraplegia is not a single disease but a group of genetic disorders in which the main feature is progressive spasticity in the lower limbs due to pyramidal tract dysfunction. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for hereditary spastic. More than 80 known or suspected genesloci have been reported to be involved in hereditary spastic paraplegia hsp. Victims experience progressive mobility loss due to degeneration of the longest axons in the spinal cord. Currently, among the 52 known hereditary spastic paraplegia genetic loci named spg152, at least 28 genes have been identified. Hereditary spastic paraplegias are divided into two types. Spastic paraplegia type 11 is a complex hereditary spastic paraplegia. Uncomplicated autosomal dominant, autosomal recessive, and xlinked hsp are genetically heterogeneous. Spastic paraplegia type 7 genetics home reference nih.
Click on the link to view a sample search on this topic. Pdf gait patterns in patients with hereditary spastic. The spastic paraplegia rating scale a reliable and valid measure of disease severity editors note, oct. There has only been one postmortem examination described. Important new tests for hereditary ataxia and hereditary spastic paraplegia duration. To investigate the phenotypic spectrum, prognostic factors, and genotype. Autosomal dominant spastic paraplegia 9a is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs.
The hereditary spastic paraplegias hsps are inherited neurologic disorders in which the primary symptom is insidiously progressive difficulty walking due to lower extremity weakness and spasticity. May 27, 2016 spastic paraplegia 4 spg4 is the most common type of hereditary spastic paraplegia hsp inherited in an autosomal dominant manner. Because the medical literature on hereditary spastic paraplegia hsp is dominated by descriptions of adult case series, there is less emphasis on the genetic evaluation in suspected pediatric cases of hsp. These disorders are characterized by progressive muscle stiffness spasticity and the development of paralysis of the lower limbs paraplegia. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Before the advent of molecular genetic studies into these disorders, several classifications had been proposed, based on the mode of inheritance, the age of onset of symptoms. Hereditary spastic paraplegia hsp, also called familial spastic paraparesis fsp, refers to a group of inherited disorders that are characterized by progressive weakness and spasticity stiffness of the legs.
We used combinations of the following search terms. Both emma 3 years and angela 2 years have a rare birth defect called hereditary spastic paraplegia. Hereditary spastic paraplegia is a heterogeneous group of genetic disorders characterized by progressive spasticity and in some patients weakness of the lower extremities. Apr 24, 2016 hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease, or strumpelllorrain disease. I will admit that its hard to have 2 disabled kids and only 1 parent, who is also disabled. To date, more than 30 different loci for hsp, termed spastic paraplegia genes, have been identified. At the start, patients may find it difficult to walk, climb stairs, or balance.
Early in the disease course, there may be mild gait difficulties and stiffness. Clinicogenetic lessons from 608 patients rebecca schule. Spastic paraplegia type 4 genetics home reference nih. Hereditary spastic paraplegia hsp is a disorder characterized by degeneration of the corticospinal tracts and posterior column of the spinal cord. If you have problems viewing pdf files, download the latest version of. In 2003 the german network for hereditary movement disorders genemove was founded to research rare genetic. People with spg11 experience worsening muscle stiffness leading to eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms that may include intellectual disability, speech difficulties dysarthria, and reduced bladder control. Aug, 2008 hereditary spastic paraplegia 8 spg8 is a pure hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of the lower limbs i. Rebecca schule, driving force behind the creation and development of the sprs, is a member of the clinical trial team associated with the hsp research program that is facilitated and funded by this foundation. Objectives to perform a clinical and genetic study of families with adhsp and to perform the functional analysis of the founder mutation discovered in the spg4 gene. One of the rarer autosomal dominant forms of hereditary spastic paraplegia, spg8, is caused by mutations in the kiaa0196 gene on chromosome 8, encoding the protein. Genedx believes in responsible testing that is based on established medical guidelines, and we aim to be completely transparent with our pricing so that patients, clinicians, and payers know the cost of the test.
Spastic paraplegia, epilepsy, and mental retardation in several members of a family. To date, the structured rehabilitation programme for the patient with hsp is not documented. Hereditary spastic paraplegia genetic and rare diseases nih. Spastic paraplegia is a neurological syndrome that may be seen in numerous conditions that affect the spinal cord, primarily of vascular and inflammatory origin. Pubmed is a searchable database of medical literature and lists journal articles that discuss spastic paraplegia 9.
Comprehensive hereditary spastic paraplegia panel genedx. Mr imaging findings in autosomal recessive hereditary. Gigli gl, diomedi m, bernardi g, placidi f, marciani mg, calia e, maschio mc, neri g. Hereditary spastic paraplegia genetic and rare diseases.
The disease was investigated precisely but still clinicians often make incorrect or late diagnosis. This study was prompted by the diagnosis of multiple sclerosis ms in two sisters from a large pedigree with hereditary spastic. The position of these mutations can vary, and a range of different motile behaviors have been observed, indicating that the hsp mutants can alter distinct aspects of kinesin mechanochemistry. Hereditary spastic paraplegia hsp is a group of inherited diseases whose main feature is a. Cold temperature improves mobility and survival in. Rating scale devised for hsp hsp research foundation. Hereditary spastic paraplegia or strumpelllorraine syndrome as stated is a collection of inherited neurological disorders in which there is gradual weakness of the leg muscles along with increased muscle tone and spasticity. Dec 14, 2018 hereditary spastic paraplegia or strumpelllorraine syndrome this name is given to a collection of genetic neurological disorders, which cause progressive weakness and spasticity in the lower extremities resulting in various complications including severe gait abnormalities. Hereditary spastic paraplegia hsp is a group of inherited diseases whose main feature is a progressive gait disorder. Hereditary spastic paraplegia hsp is a diverse group of inherited disorders characterized by progressive lowerextremity spasticity and weakness. The clinical presentation encompasses a variable degree of motor and sensory loss of the lower limbs, as well as bladder abnormalities and improper sphincter control. Mar 01, 2020 access to this database is free of charge. Hereditary spastic paraplegia spg8 mutations impair cav1. Spastic paraplegia type 3a accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraplegia cases.
Case report physical therapy interventions for the. May 31, 2016 spastic paraplegia 11 spg11 is a form of hereditary spastic paraplegia. My neurologist decided, after many tests, that i had hsp. Hereditary spastic paraplegia hsp is a genetic disorder characterised by progressive weakness and spasticity of the lower limbs. Spastic paraplegia type 4 is a pure hereditary spastic paraplegia. A novel phenotype of hereditary spastic paraplegia type 7. Hsp is a clinically and genetically heterogeneous disorder. Hereditary spastic paraplegia an overview sciencedirect. Over half of adhsp cases arise from lossoffunction mutations in spastin, which encodes a microtubulesevering aaa. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles.
Spastic paraplegia type 11 genetics home reference nih. Find out information about hereditary spastic paraplegia. Hereditary spastic paraplegia hsp is a clinically and genetically heterogeneous neurodegenerative disease characterized by progressive spasticity and weakness of the lower limbs. Hereditary spastic paraplegia hsp is a large group of inherited neurologic disorders, in which the prominent feature is a progressive spastic paraparesis. Pdf hereditary spastic paraparesis hsp or the strumpelllorrain syndrome is the name given to a heterogeneous. It is hoped that the availability of the sprs will make the choice of management and treatment options that much more scientific and precise.
Dementia in spg4 hereditary spastic paraplegia neurology. Keywords hereditary spastic paraplegia prevalence sardinia epidemiology introduction the hereditary spastic paraplegias hsps are a group of clinically and genetically heterogeneous neurodegenerative disorders of the motor system characterized by progressive spasticity and. Hereditary spastic paraplegia is a large group of degenerative, neurological disorders characterized by progressive lower limb spasticity and weakness. Spastin, the most commonly mutated protein in the autosomal dominant form of hereditary spastic paraplegia adhsp has been suggested to be involved in vesicular cargo trafficking.
Hereditary spastic paraplegia associated with epilepsy, mental retardation and hearing impairment. Hereditary spastic paraplegias hsps are genetically driven disorders with the hallmark of progressive spastic gait disturbance. Hereditary spastic paraplegia hsp describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs. Background spastic gait is a key feature in patients with hereditary spastic paraparesis, but the gait characterization and the relationship. Baseline characteristics of the hereditary spastic paraplegia cohort characteristic dominant recessive simplex total. To date, more than 80 genetic types of hsp have been defined by genetic linkage analysis and identification of hsprelated gene variants. Hsp affects individuals diverse ethnic groups with prevalence estimates ranging from 1. The official patients sourcebook on hereditary spastic paraplegia. Spastic paraplegia type 15 genetics home reference nih. Other findings can include weakness with muscle wasting of the lower limbs, urinary urgency, and decreased vibration sense. People with this condition can also experience exaggerated reflexes hyperreflexia, ankle spasms, higharched feet pes cavus, and reduced bladder.
Pure hsps are characterized by slowly progressive lower extremity spasticity and. Author links open overlay panel samuel shribman ma a evan reid phd c prof andrew h crosby phd d prof henry houlden phd b prof thomas. Pdf hereditary spastic paraplegia comprises a wide and. Disease onset ranges from infancy to older adulthood.
Functional assessment of lower extremities in hereditary spastic. Hereditary spastic paraplegia is a genetic recessive disease. Physical therapy in hereditary spastic paraplegia christina maria cop physiotherapist. Mar 20, 2020 there are two general classifications of hereditary spastic paraplegia the pure or uncomplicated type and the complex or complicated type. Welcome to the hsp research foundation created in 2005 to find a cure for hereditary spastic paraplegia an inherited, degenerative disease affecting mainly the legs, causing muscle weakness, spasticity and severely impairing walking. For this article we performed a comprehensive search in medline and lilacs databases for articles published from 1950 to 2018. In uncomplicated hereditary paraplegia, patients usually experience mostly muscle weakness and stiffness in the legs. The prevalence of hereditary spastic paraplegia hsp is highly variable, ranging from 111,00077,000 in europe. They are classified by their mode of inheritance autosomal dominant, autosomal recessive, or xlinked and by whether the spasticity is the. Molecular genetics and gene analysis of hereditary. Spastic paraplegia type 3a belongs to a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to 9 per 100,000 individuals.
Spastic paraplegia 4 genetic and rare diseases information. Spg4 is characterized by slowly progressive muscle weakness and spasticity stiff or rigid muscles in the lower half of the body. Ophthalmological changes in hereditary spastic paraplegia. Insight into the genetic basis of these disorders is expanding rapidly.
The objective of the study is to illustrate the effectiveness of the structured 8. The clinical spastic paraplegia rating scale sprs measures disease severity and progression. In almost all individuals with this type of spastic paraplegia, the tissue connecting the left and right halves of the brain corpus callosum is. Early onset cases were able to maintain free walking significantly longer and were at less risk to become wheelchair dependent. Spastic paraplegia 11 genetic and rare diseases information. Our aim was to investigate the genetic background and clinical phenotype of spastic paraplegia in large polish family. The high prevalence of hereditary spastic paraplegia in.
Hereditary spastic paraplegia hsp or strumpelllorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4. Structural consequences of hereditary spastic paraplegia. Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Spg31 on the basis of emerging pathways for spastic paraplegia and conserved protein domains contained in proteins that cause neurodegenerative diseases, zuchner et al. The term hereditary spastic paraplegia hsp embraces a clinically. By genomewide analysis of a consanguineous moroccan family with sensory neuropathy and spastic paraplegia, bouhouche et al. Table of contents expand submenu for table of contents. Hereditary spastic paraplegia nord national organization.
Hereditary spastic paraparesis hsp is a clinically and genetically heterogeneous neurodegenerative disorder characterised by progressive lower limb spasticity and weakness. Accumulation of genotypephenotype correlation is important for better understanding of spg4linked hereditary spastic paraplegia. Some forms have been associated with white matter lesions and complex phenotypes. Important gene tests for hereditary spastic paraplegia. I started showing minor symptoms heavy footedness in 20078. Genetic types of hereditary spastic paraplegia hsp. Oct 12, 2016 download fulltext pdf download fulltext pdf. There wasnt any previous knowledge of health issues anywhere on either side of my family that we knew of. Hereditary spastic paraplegia proteins reep1, spastin, and atlastin1 coordinate microtubule interactions with the tubular er network seong h. The official patients sourcebook on hereditary spastic. The pathogenic mechanism, associated clinical features, and imaging abnormalities vary substantially according to the affected gene and differentiating hsp from other genetic diseases associated with spasticity can be challenging. Mutations in the spg4 gene spastin protein are responsible for approximately 40% of autosomal dominant hsp cases.
Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. Hereditary spastic paraplegia information page national. Hereditary spastic paraplegia is a rare disorder with gait disturbance due to a degeneration of the corticospinal tract, sometimes accompanied by involvement of other systems. Hereditary spastic paraplegia hsp is a syndrome designation describing inherited disorders in which lower extremity weakness and spasticity are the predominant symptoms. Molecular genetics and gene analysis of hereditary spastic paraplegia hiroyuki ishiura, m.
Hereditary spastic paraplegia article about hereditary. Case report on novel mutation in spast gene in polish. The hereditary spastic paraplegias hsp are a large group of inherited neurologic disorders that share the primary symptom of difficulty walking due to muscle weakness and muscle tightness spasticity in the legs. Spastic paraplegia type 3a genetics home reference nih. An apparently sporadic case of adultonset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. The differential diagnosis of progressive spastic paraplegia strongly depends on the age at o. Important gene tests for hereditary spastic paraplegia hereditary spastic paraplegia hsp. Cognitive impairment and dementia has been reported in autosomal dominant hereditary spastic paraparesis hsp linked to the spg4 locus. Previously described radiologic findings included nonspecific brain abnormalities such as brain atrophy and white matter lesions, as well as atrophy of the spinal cord. A hereditary spastic paraplegia mouse model supports a role of zfyve26spastizin for the endolysosomal system.
Hereditary spastic paraplegia hsp is a group of clinically and genetically heterogeneous. Hereditary spastic paraplegia hsp leading symptom progressive spastic paraplegia hsp genetic causes with more than 150 known disease genes or loci, hsps are, genetically, very. Like all hereditary spastic paraplegias, spastic paraplegia type 11 involves spasticity of the leg muscles and muscle weakness. A family with spg4hsp known to have a deletion of exon 17 in the spastin gene. Talking with my older brother on the phone, he lives in sydney, we realised we both had some similar problems and decided we would see seperate neurologists. Case report physical therapy interventions for the patients. Hereditary spastic paraplegia hsp type spg8 is an inherited neurologic disorder associated with mutations in washc5, which encodes strumpellin, a component of the wash complex, which localizes to endosomes and plays a role in endosomal sorting. Paraplegia is impairment in motor and or sensory functions of the lower extremities often including lower part of the trunk.
Abstract hereditary spastic paraplegia hsp is a group of geneticallydetermined disorders characterized by progressive spasticity and weakness of lower limbs. Hereditary spastic paraplegia or strumpelllorraine syndrome is also known by the name of familial spastic paraplegia. Hereditary spastic paraplegia institute for rare diseases. A novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in paraplegin. A wide range of mutations in the kinesin motor kif5a have been linked to a neuronal disorder called hereditary spastic paraplegia hsp.
Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. Autosomaldominant hereditary spastic paraplegia ad hsp is a crippling neurodegenerative disease for which effective treatment or cure remains unknown. A large family with hereditary spastic paraparesis due to. Hereditary spastic paraplegia caused by a mutation in the.