Strumpelllorrain disease or familial spastic paraplegia fsp is a rare hereditary neurological disorder, mainly characterized by variable degrees of stiffness and weakening of the muscles, with cognitive impairment, deafness, and ataxia in the more severe cases. Mar 27, 2019 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. Pdf electrophysiological studies in familial spastic. The term paraplegia means severe weakness in both legs including paralysis. Family members displayed brisk lowerextremity reflexes and dysarthria in a pedigree that suggested autosomal dominant inheritance with variable expression. Spastic paraplegia 11 genetic and rare diseases information. Electrophysiological studies in familial spastic paraplegia. The spasticity is progressive, develops as a result of damage to nerve tissue and may be rather severe in nature. Proteolipid protein 1 and dm20 are primarily located in the brain and spinal cord central nervous system and are the main proteins found in myelin, the fatty covering that insulates. All forms of hsp, complicated and uncomplicated, share the primary symptom of lowerextremity spastic weakness.
Pdf hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental. In 1983, harding published an article in the lancet journal, classification of hereditary ataxias and paraplegias. Hereditary spastic paraplegia hsp describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs. Dec 14, 2018 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. 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. The disease presents with progressive stiffness spasticity and contraction in the lower limbs. This study is the first description of an association between these three disorders. Syndrome ofthe month pure hereditary spastic paraplegia ncbi. People with this condition can also experience exaggerated reflexes hyperreflexia, ankle spasms, higharched feet pes cavus, and reduced bladder.
Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of. Goizet c, depienne c, benard g, reep1 mutations in spg31. The pathogenic mechanism, associated clinical features, and imaging abnormalities vary substantially according to the affected gene and differentiating hsp from other genetic diseases associated. 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. Hsp is classified according to the mode of inheritance, the hsp locus when known, and whether the spastic paraplegia syndrome occurs alone or is accompanied by additional neurologic or systemic abnormalities. Clinically, they present with lower limb spasticity and weakness.
Hereditary spastic paraplegia hsp or strumpelllorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4. Test invitae hereditary spastic paraplegia comprehensive. Physical therapy in hereditary spastic paraplegia christina maria cop physiotherapist. Padberg d department of neurology, oudenryn hospital, utrecht, the netherlands b department of human genetics, university hospital, nijmegen, the. 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. Journalofneurology, neurosurgery, andpsychiatry, 1977, 40, 611615 electrophysiological studies in familial spastic paraplegia j. Spastic paraplegia type 4 genetics home reference nih. 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. Reflexes become exaggerated, and leg cramps, twitches, and spasms occur, making leg movements stiff and jerky called a spastic gait. Pmc free article nance ma, raabe wa, midani h, kolodny eh, david ws, megna l, pericakvance ma, haines jl. Strumpelllorrain disease designating one type of hsp called spg4. Pdf clinical characteristics of taiwanese patients with. Paraparesis indicates weakness in both legs of lesser severity than paraplegia.
General anaesthetics and hsp hsp research foundation. Spastic paraplegia type 4 is a pure hereditary spastic paraplegia. May 06, 2019 hereditary spastic paraplegia hsp, also known as familial spastic paraparesis, is a term used for a group of inherited diseases that affect the upper motor neurons traveling from the brain. Familial spastic paraplegia, mental retardation, and. Analysis of 11 recently discovered hsp genes provides insight into hsp pathogenesis. Pure hereditary spastic paraplegia was then subdivided into 2 groups, type i and type ii according to the age of onset. Pdf hereditary spastic paraparesis hsp or the strumpelllorrain syndrome is the name given to a heterogeneous group of inherited disorders in which. Pure hereditary spastic paraplegia is the most common form of hereditary spastic paraplegia. The severity of symptoms is determined by the nature and extent of the damage. Hsp research foundation just another wordpress site. 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. Hereditary spastic paraplegia hsp is a group of clinically and genetically diverse inherited neurodegenerative disorders that cause lower limb spasticity and weakness.
Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21. 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. 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. Individuals with complicated hsp exhibit additional neurologic. Familial spastic paraplegia syndrome, also known under the name hereditary spastic paraplegia, represents a group of rare medical conditions characterized by spasticity in the lower extremities. Hereditary spastic paraplegia or strumpelllorraine syndrome is also known by the name of familial spastic paraplegia. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease. Mr imaging findings in autosomal recessive hereditary.
Familial spastic paraplegia syndrome musculoskeletal. Article abstractfamilial spastic paraplegia fsp refers to clinically and genetically diverse syndromes characterized by insidiously progressive lower extremity spasticity. Pdf electrophysiological studies in familial spastic paraplegia. May 31, 2016 spastic paraplegia 11 spg11 is a form of hereditary spastic paraplegia. 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.
The hereditary spastic paraplegias hsps comprise a large group of inherited neurologic disorders. Hereditary spastic paraparesis msd manual consumer version. Familial addisons disease with spastic paraplegia the. Important gene tests for hereditary spastic paraplegia. Hereditary spastic paraparesis merck manuals consumer version. The differential diagnosis of progressive spastic paraplegia strongly depends on the age at onset, as well as the accompanying clinical features, possible abnormalities on mri, and family. Hereditary spastic paraplegia symptoms, diagnosis, treatments. Full text get a printable copy pdf file of the complete article 585k, or click on a page image below to browse page by page. Despite this, it remains an uncommon neurologic disorder. Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Hereditary spastic paraplegias are divided into two types.
Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. Reep1 mutation spectrum and genotypephenotype correlation in hereditary spastic paraplegia type 31. Strumpelllorrain syndrome is the name given to a heterogeneous group of inherited disorders in which the main. Early in the disease course, there may be mild gait difficulties and stiffness. Pure hereditary spastic paraplegia strumpell disease was then divided into 3 forms according to the mode of inheritance. 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. People with hereditary spastic paraparesis have exaggerated reflexes, cramps, and spasms, making walking difficult. Familial spastic paraplegia with kallmanns syndrome. Hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. We report a case study spanning three generations of familial spastic paraplegia, distal amyotrophy and poikiloderma. Hereditary spastic paraplegia hsp refers to inherited disorders in which spastic gait is.
Hereditary spastic paraparesis brain, spinal cord, and. Hsp, also called familial spastic paraplegia, was initially referred to as strumpelllorrain disease, a name. Hereditary spastic paraplegia is a rare, genetically determined degenerative disorder affecting predominantly corticospinal neurons. Apr 24, 2016 hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Reye from the department of medicine, university of sydney, andspastic centre of newsouth wales, australia summary motor and sensory conduction studies have been performed in 10 patients from. These disorders are characterized by progressive muscle stiffness spasticity and the development of paralysis of the lower limbs paraplegia. 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. Hereditary spastic paraplegia nord national organization. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. The association of familial spastic paraplegia and kallmanns syndrome has not been described previously. Familial spastic paraplegia with amyotrophy, oligophrenia. 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, and the.
Hereditary spastic paraplegia hsp is a clinically and genetically heterogeneous group of neurological disorders that is subdivided into complicated i. Hereditary spastic paraplegia hsp is a diverse group of inherited disorders characterized by progressive lowerextremity spasticity and weakness. Doctors look for other family members who have the disorder, rule out. Hereditary spastic paraplegia hsp is a heterogeneous group of hereditary disorders first described by strumpell in 1880, characterized by degeneration of the corticospinal tracts and posterior column of the spinal cord. Familial spastic paraplegia motor neuron disease toxic myelopathy. Hereditary spastic paraplegia hsp is a group of inherited diseases whose main feature is a progressive gait disorder. Hsp can be divided into uncomplicated pure or complicated hsp depending on the presence of other neurological features in addition to spastic paraparesis.
Familial spastic paralysis is in many ways one of the most interesting of the heredofamilial diseases of the central nervous system. Invitae hereditary spastic paraplegia comprehensive panel. The differential diagnosis of progressive spastic paraplegia strongly depends on the age at onset, as well as the accompanying clinical features, possible. Hereditary spastic paraplegia information page national.
Hereditary spastic paraplegia definition hereditary spastic paraplegia hsp, also known as familial spastic paraparesis fsp, refers to a group of inherited disorders that are marked by progressive weakness and stiffness of the legs. Electrophysiological studies in familial spastic paraplegia j. We evaluated 126 members of a large kindred, including 31 affected subjects, in which fsp was transmitted as a stereotyped, autosomal dominant disorder that showed complete genetic. Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. Hereditary familial spastic paraparesis is a group of rare hereditary disorders that cause gradual weakness with muscle spasms spastic weakness in the legs. Type i autosomal dominant spastic paraplegia was defined as having early onset younger than 35 years with slow, progressive symptoms and spasticity that was more marked than muscle weakness. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in. There are now clinical and pathological data supporting the separation of pure strumpells familial spastic paraplegia from the other heredodegenerative diseases of the nervous system. Autosomal dominant, familial spastic paraplegia, type i. Hereditary spastic paraparesis hsp or the strumpelllorrain syndrome is the name given to a heterogeneous group of inherited disorders in which the main clinical feature is progressive lower limb spasticity.
Padberg d department of neurology, oudenryn hospital, utrecht, the netherlands b department of human genetics, university hospital, nijmegen, the netherlands department of. Hereditary spastic paraplegia hsp, also known as familial spastic paraparesis, is a term used for a group of inherited diseases that. Hereditary spastic paraplegia hsp refers to a group of familial diseases that are characterized by progressive degeneration of the corticospinal tracts. Hsp syndromes have traditionally been classified as either uncomplicated pure or complicated. Hereditary spastic paraplegia hsp is a group of neu rodegenerative monogenic disorders characterized by dysfunction of the longer tracts of the spinal cord. The hsp research foundation is an incorporated, registered australian charity that. Spastic paraplegia 11 spg11 is a form of hereditary spastic paraplegia. Cases with coexisting spastic paraplegia and ataxia have been described as hereditary ataxia of the spastic type by bell and carmichael in their critical study of familial spastic paraplegia. Reye from the department of medicine, university of sydney, andspastic centre of newsouth wales, australia summary motor and sensory conduction studies have been performed in 10 patients from three families. A slowprogressing degeneration of the tract that connects the brain to the spinal cord corticospinal tract resulting in muscle spasticity, weakness and paralysis. Natural cure for hereditary spastic paraplegia and. Uncomplicated hsp is the most common and is characterized purely by spastic. 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.
Strumpelllorrain disease or hereditary spastic paraplegia describes a group of rare and. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different neurological and systemic. Hereditary spastic paraplegia hsp, spg loci, strumpelllorrain syndrome, pure and complex forms. We evaluated 126 members of a large kindred, including 31 affected subjects, in which fsp was transmitted as a stereotyped, autosomal dominant disorder that showed complete genetic penetrance. Hereditary spastic paraplegia an overview sciencedirect.
Spastic paraplegia 1 to establish the cause of spastic paraplegia in an affected person, the evaluation strategy includes. Generally speaking, if the disorder is developed in early childhood, the symptoms will be nonprogressive, whereas the opposite holds true if developed later in life. Two brothers had progressive spastic paraplegia and precocious puberty develop due to leydigs cell hyperplasia when they were 2 years old. The plp1 gene provides instructions for producing proteolipid protein 1 and a modified version isoform of proteolipid protein 1, called dm20. The condition is outlined in more detail in chapter 69. Its also known as familial spastic paraparesis or strumpelllorrain syndrome. Spastic paraplegia type 2 genetics home reference nih. Mutations in the plp1 gene cause spastic paraplegia 2. Hereditary spastic paraparesis affects both sexes and may begin at any age. Symptoms of hereditary spastic paraparesis may begin at any agefrom age 1 to old agedepending on the form. Before the advent of molecular genetic studies into these disorders, several classifications had been proposed, based on the mode of inheritance, the. Elsevier clinical neurology and neurosurgery clinical neurology and neurosurgery 99 1997 8790 familial spastic paraplegia. Hereditary spastic paraplegia genetic and rare diseases. It may occur in a simple form as a pure spastic paraplegia, as it was first described by str\lu\mpell,1 in 1886, but is apt to present itself in a complex form and may, in fact, be one of the most bizarre of all its group.
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