Instead, the problem resides in either the brain or the spinal cord, which cannot send or receive signals to the lower body due to an injury or disease. Most people with paraplegia have perfectly healthy legs. Hereditary spastic paraplegia an overview sciencedirect. Paraplegia spastic flaccid paraplegia in extension paraplegia. Although with increasing knowledge of the molecular genetics of hsp the distinction is becoming blurred, classically hsps are divided into pure or uncomplicated forms, versus complex or complicated forms. Orphanet is a european reference portal for information on rare diseases and orphan drugs. Hereditary spastic paraplegia summary hereditary spastic paraplegias hsp are a rare group of inherited neurodegenerative diseases which mainly affect the longest axons of the corticospinal tract and the dorsal column which supply the lower limbs. Hereditary spastic paraplegia study provides new clues. Modeling neurodevelopment and cortical dysfunction in. Spastic paraplegia type 49 genetics home reference nih. Triplegia is a medical condition characterized by the paralysis of three limbs triplegia muscle anatomy. Synuclein pathology in a case of hereditary spastic paraplegia spg7 with an ala510val mutation dietmar r. 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.
To describe the clinical, genetic, and epidemiologic features of hereditary spastic paraplegia hsp in canada and to determine which clinical, radiologic, and genetic factors determine functional outcomes for patients with hsp. Spastic paraplegia type 5 spg5 is a rare subtype of hsp caused by recessive mutations in cyp7b1 encoding oxysterol7. Mutations in the spastic paraplegia gene11 spg11, encoding spatacsin, cause the most frequent form of autosomal recessive hsp. Effects of botulinum toxin injections in patients with. People with the complex form of spastic paraplegia type 2 have lower limb spasticity and can also experience problems with movement and balance ataxia. Our highly skilled staff, scientific advisory board, medical advisors, cpa, attorney, president, board members all of us are working hard every day probono because we strongly believe in this cause. Hereditary spastic paraplegia hsp, also known as hereditary spastic paraparesis, familial spastic paraplegias, french settlement disease, or strumpelllorrain disease, is a group of inherited diseases whose main feature is progressive stiffness and contraction spasticity in the lower limbs, as a result of damage to or dysfunction of the nerves. A person with triplegia can be referred to as triplegic.
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. Spastic paraplegia type 2 genetics home reference nih. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease, or strumpelllorrain disease. Abnormal paraplegin expression in swollen neurites. Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. Spastic paraplegia 26 genetic and rare diseases information. May 31, 2016 spastic paraplegia 11 spg11 is a form of hereditary spastic paraplegia. Spastic paraplegia type 49 often begins with weak muscle tone hypotonia that starts in infancy. The hereditary spastic paraplegia hsp is a progressive neurodegenerative condition presenting with lower limb spasticity, weakness and axonopathy of the long corticospinal tracts 5. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in. Hereditary spastic paraplegia hsp or strumpelllorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4. A report from north east china 1chunkui zhou, 2lijun zhu, 1xinyuan li, 1heqian du, 1shanshan dong, 1qun liu, 1shaokuan fang 1department of neurology, neuroscience centre, the first teaching hospital of jilin university, changchun. Clinical description clinically, hsps can be divided into the pure and complex form.
Spastic paraplegia type 11 genetics home reference nih. Hereditary spastic paraplegia hsp is a genetic disorder characterised by progressive weakness and spasticity of the lower limbs. Mar 20, 2020 there are two general classifications of hereditary spastic paraplegia the pure or uncomplicated type and the complex or complicated type. Paraplegia in children pdf this is a pdf only article. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. Welcome to the hsp research foundation created in 2005 to find an effective treatment for hereditary spastic paraplegia hsp an inherited, degenerative disease affecting mainly the legs, causing spasticity, muscle weakness and severely impairing walking. During childhood, spasticity and paraplegia develop and gradually worsen, causing difficulty walking and. Please go to clinical trials and search on key words primary lateral sclerosis or hereditary spastic paraplegia to. If you have problems viewing pdf files, download the latest version of adobe reader.
The prominent features of this pathological condition are progressive spasticity and weakness of the lower limbs. Hereditary spastic paraplegia nord national organization. Rating scale devised for hsp hsp research foundation. The first page of the pdf of this article appears below. Get a printable copy pdf file of the complete article 1.
Hereditary spastic paraplegia clinicogenetic lessons from 608 patients rebecca schule md1,2,3, sarah wiethoff md1,4, peter martus5, kathrin n karle md1,2,6. Spastic paraplegia 11 genetic and rare diseases information. Spastic paraplegia rating scale sprs is suitable for all subtypes of sp including familial and sporadic forms as well as pure and complicated phenotypes. The ninds supports research on genetic disorders such as hsp. Sensory neuropathy in hereditary spastic paraplegia. Paraplegia is impairment in motor and or sensory functions of the lower extremities often including lower part of the trunk. Hereditary spastic paraplegia hsp is a group of clinically and genetically heterogeneous neurological disorders characterized by pathophysiologic hallmark of lengthdependent distal axonal degeneration of the corticospinal tracts. Patients commonly experience a gradual, yet continuous development of weakness and spasticity or stiffness of the muscles of the legs.
The spastic paraplegia rating scale a reliable and valid measure of disease severity editors note, oct. Hereditary spastic paraplegia hsp is a group of inherited disorders, characterized by progressive bilateral lower limb spasticity and, to a lesser. Hereditary spastic paraplegia public group facebook. Disease onset ranges from infancy to older adulthood.
In almost all individuals with this type of spastic paraplegia, the tissue connecting the left and right halves of the brain corpus callosum is abnormally thin. Spastic paraplegia type 4 genetics home reference nih. Paraparesis indicates weakness in both legs of lesser severity than paraplegia. The spastic paraplegia foundation is an all volunteer run foundation. The objective of the study is to illustrate the effectiveness of the structured 8. Early in the disease course, there may be mild gait difficulties and stiffness. Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from primary retrograde dysfunction of the long descending fibers of the corticospinal tract.
Molecular genetic testing genetic loci for hsp are designated spg spastic gait followed consecutively by the locus number assigned in order of discoverythe first locus identified was named spg1. Case report physical therapy interventions for the. Clinically, they present with lower limb spasticity and weakness. Nov, 2015 effects of botulinum toxin injections in patients with hereditary spastic paraplegia spastox the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Clinical data showed that spastic paraplegia is accompanied by a number of other features, including verbal and spatial memory deficits, not only in patients with complicated hereditary spastic paraplegia chsp but also in pure hereditary spastic paraplegia phsp. A gene mutation linked to hereditary spastic paraplegia, a disabling neurological disorder, interferes with the normal breakdown of triglyceride fat molecules in the brain, scientists have found. If you have problems viewing pdf files, download the latest version of adobe reader for language access assistance, contact the ncats public information officer genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126. 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. Spastic paraplegia type 15 genetics home reference nih. Hereditary spastic paraplegia hsp, spg loci, strumpelllorrain syndrome, pure and complex forms. Affected females have a lateonset slowly progressive spastic paraparesis.
An unusual form of hereditary spastic paraplegia is described. Spg4 is characterized by slowly progressive muscle weakness and spasticity stiff or rigid muscles in the lower half of the body. Recognize typical and less common forms of inherited ataxias and spastic paraplegias identify pathophysiology pharmacologic, genetic and biochemical of ataxias and spastic paraplegias acquire knowledge of pharmacological, rehabilitation and other treatment approaches on ataxias and spastic paraplegias. There currently exist no specific therapies for hsp, and treatment is exclusively symptomatic, aimed at reducing muscle spasticity, and improving. Structural consequences of hereditary spastic paraplegia.
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. Hereditary spastic paraplegia associated with epilepsy, mental retardation and hearing impairment. Hereditary spastic paraplegia hsp refers to a heterogeneous group of neurodegenerative conditions characterized by progressive degeneration of the corticospinal tracts and posterior column of the spinal cord. Spastic paraplegia type 7 genetics home reference nih. Abstract hereditary spastic paraplegia hsp is a group of geneticallydetermined disorders characterized by progressive spasticity and weakness of lower limbs. Hsp, also called familial spastic paraplegia, was initially referred to as strumpelllorrain disease, a name given for the. For this reason, in the socalled pure hsp cases, the clinical picture is characterized mainly by a progressive spasticity of the lower limbs leading to paraparesis or.
Hereditary spastic paraplegia hsp is a group of rare, inherited neurological disorders. Hereditary spastic paraplegia hsp is a group of inherited diseases whose main feature is a progressive gait disorder. Hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Manifesting heterozygosity in sexlinked spastic paraplegia. The disease presents with progressive stiffness and contraction in the lower limbs. Hereditary spastic paraplegia definition and prevalence hereditary spastic paraplegia hsp, also called familial spastic paraplegia or strumpelllorrain disease, is a genetically and clinically heterogeneous group of inherited neurodegenerative disorders, characterised. Important gene tests for hereditary spastic paraplegia.
Spastic paraplegia is a neurological syndrome that may be seen in numerous conditions that affect the spinal cord, primarily of vascular and inflammatory origin. Hereditary spastic paraplegia h ereditary spastic paraplegia hsp is a group of clinically and genetically heterogeneous conditions, with prevalence of 10 cases per 100,000 population. Accumulation of genotypephenotype correlation is important for better understanding of spg4linked hereditary spastic paraplegia. Hereditary spastic paraplegia hsp refers to a group of familial diseases that are characterized by progressive degeneration of the corticospinal tracts. The key diagnostic clinical findings are of lower limb spasticity and pyramidal weakness, hyperreflexia and extensor plantar responses. Rare genetic neurology case files case report hereditary. 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. While there is no typical pattern of involvement, it is usually associated with paralysis of both legs and one arm but can also involve both arms and one leg. Individuals are encouraged to participate in clinical trials that will further the understanding of our conditions and their diagnosis, treatment, and cures.
Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. Although the disorder is typically referred to as hereditary spastic paraplegia the degree of weakness is variable and ranges from no weakness full strength to marked weakness. A 14yearold high school student is admitted to the pediatric neurology service because of the. Pubmed is a searchable database of medical literature and lists journal articles that discuss spastic paraplegia 9.
Spastic paraplegia type 15 usually becomes apparent in childhood or adolescence with the development of weak muscle tone hypotonia, difficulty walking, or intellectual disability. In uncomplicated hereditary paraplegia, patients usually experience mostly muscle weakness and stiffness in the legs. Spastic paraplegia, epilepsy, and mental retardation in several members of a family. Reduction of retinal nerve fibre layer rnfl thickness was shown as part of the neurodegenerative process in a range of different neurodegenerative pathologies including alzheimer. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for hereditary spastic. Spastic paraplegia 4 spg4 is the most common type of hereditary spastic paraplegia hsp inherited in an autosomal dominant manner.
Spastic paraplegia type 49 is a complex hereditary spastic paraplegia. Hereditary spastic paraplegia knowledge for medical. Hereditary spastic paraplegia hsp, also referred to as strumpelllorrain disease, familial spastic paraparesis, and spastic paraplegia, belongs to a group of rare genetic disorders that affect the nervous system. Complete sequencing of the coding region and flanking intronexon boundaries of the genes listed below. Acute paraplegia weakness or paralysis in the legs is a particular emergency because. The mode of inheritance is consistent with sexlinkage, with partial manifestation in female carriers.
The prevalence of hereditary spastic paraplegia hsp is highly variable, ranging from 111,00077,000 in europe. 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. New research from rice university and italys eugenio medea scientific institute is yielding clues about hereditary spastic paraplegia hsp, a group of inherited neurological disorders that affect about 20,000 people in the united states. Gigli gl, diomedi m, bernardi g, placidi f, marciani mg, calia e, maschio mc, neri g. 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. Affected males show oligophrenia with a rapidly progressive spastic quadriplegia. Hereditary spastic paraplegia radiology reference article. A wide range of mutations in the kinesin motor kif5a have been linked to a neuronal disorder called hereditary spastic paraplegia hsp. Hereditary spastic paraplegia genetic and rare diseases. Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Nhs direct wales hereditary spastic paraplegia hsp refers to a group of inherited disorders that cause weakness and stiffness of the leg muscles, which gradually gets worse over time. These disorders are characterized by progressive muscle stiffness spasticity and the development of paralysis of the lower limbs paraplegia. 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.
In pure hsps, progressive spastic paraplegia is the predominant clinical feature, and it may begin at any age, al. Hereditaryspasticparaplegiainformationpage national. At the start, patients may find it difficult to walk, climb stairs, or balance. Paraplegia, sometimes called partial paralysis, is a form of paralysis in which function is substantially impeded from the waist down. Hereditary spastic paraplegias are divided into two types. Hereditary spastic paraplegia genetic and rare diseases nih. Spastic paraplegia 11 spg11 is a form of hereditary spastic paraplegia. They are classified by their mode of inheritance autosomal dominant, autosomal recessive, or xlinked and by whether the spasticity is the. It has no known treatment, and affected subjects frequently become dependent on a wheelchair during the advanced stage of the disease. Hereditary spastic paraplegia hsp is a group of neu rodegenerative monogenic disorders characterized by dysfunction of the longer tracts of the spinal cord. Onset can be at any age, from the first year of life to old age, depending on the specific genetic form.
Hereditary spastic paraplegia hsp april 24, 2017 eurordisrare diseases europe is a unique, nonprofit alliance of 745 rare disease patient organisations from 65 countries that work together to improve the lives of the 30 million people living with a rare disease in europe. For language access assistance, contact the ncats public information officer. Pubmed is a searchable database of medical literature and lists journal articles that discuss spastic paraplegia 7. Hereditary spastic paraplegia information page national. Pubmed is a searchable database of medical literature and lists journal articles that discuss spastic paraplegia 15. Researchers estimate that some 90 different types of hsp. Experienced complaints, activity limitations and loss of motor. Spastic paraplegia 12 genetic and rare diseases information. The term paraplegia means severe weakness in both legs including paralysis. Overlapping molecular pathological themes link charcot. Hereditary spastic paraplegia is a heterogeneous group of genetic disorders characterized by progressive spasticity and in some patients weakness of the lower extremities. Hsp research foundation just another wordpress site. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree.
Jan 14, 2019 hereditary spastic paraplegia hsp is not a single disease entity. Spastic paraplegia type 4 is a pure hereditary spastic paraplegia. Clinical features and management of hereditary spastic. Retinal nerve fibre layer loss in hereditary spastic. To further clarify the specificity of rnfl thinning as a potential. Hereditary spastic paraplegia is a diagnosis which covers a range of rare genetic disorders. To date, the structured rehabilitation programme for the patient with hsp is not documented. A pure form of hereditary spastic paraplegia characterized by a childhood to adulthoodonset of slowly progressive lower limb spasticity and hyperreflexia of.
Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. Spastic paraplegia type 5 spg5 is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different neurological and systemic. Hereditary spastic paraplegia hsp is a group of neurodegenerative monogenic disorders characterized by dysfunction of the longer tracts of the spinal cord.
Hereditary spastic paraplegia hsp is a rare hereditary disorder and becomes clinically apparent during adolescence or in childhood and progresses s1owly throughout the adult years with a. Hereditary spastic paraplegia hsp is a clinical diagnostic designation for those neurologic syndromes a in which bilateral lower extremity weakness and spasticity each of variable degree are the predominant but often not only manifestations. Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles. Hereditary spastic paraplegia clinical presentation. In almost all affected individuals, the tissue connecting the left and right halves of the brain corpus callosum is abnormally thin and becomes thinner over time. Click on the link to view a sample search on this topic. Hereditary spastic paraplegia hsp, also known as strumpellorraine disease, is a group of neurodegenerative disorders that cause severe disability due to spastic weakness of the lower extremities. Understand rigidity vs spasticity in less than 3 minutes duration. Like all hereditary spastic paraplegias, spastic paraplegia type 11 involves spasticity of the leg muscles and muscle weakness. Paraplegic paraplegia definitions, causes, symptoms.
Spastic paraplegia type 11 is a complex hereditary spastic paraplegia. Spastic paraplegia type 49 is part of a group of genetic disorders known as hereditary spastic paraplegias. Weve put some small files called cookies on your device to make our site work. Autosomal recessive spastic paraplegia type 26 spg26 is a rare, complex type of hereditary spastic paraplegia characterized by the onset in. Spastic paraplegia 1 to establish the cause of spastic paraplegia in an affected person, the evaluation strategy includes. The hsp research foundation is an incorporated, registered australian charity that. In almost all individuals with this type of spastic paraplegia, the tissue connecting the left and right halves of the brain corpus callosum is. People with this condition can also experience exaggerated reflexes hyperreflexia, ankle spasms, higharched feet pes cavus, and reduced bladder. Participants will learn how to define and recognize the clinical symptoms of hereditary spastic paraplegia hsp type 4, demonstrate the variant analysis process and report interpretation, and express the value of family studies.
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