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. The high prevalence of hereditary spastic paraplegia in. Hereditary spastic paraplegia is a genetic recessive disease. 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. Their primary symptoms are progressive spasticity and weakness of the. New research is yielding clues about hereditary spastic paraplegia hsp, a group of inherited neurological disorders that affect about 20,000 people in. A team at the icm showed that different mutations of one gene, aldh18a1, are associated with several types of hereditary spastic paraplegias and different modes of transmission. Many forms of hereditary spastic paraparesis damage other parts of the body in addition to the spinal cord. Onset can be at any age, from the first year of life to old age, depending on the specific genetic form. Paraparesis indicates weakness in both legs of lesser severity than paraplegia. Hereditary spastic paraplegia, spg are a group of genetic disorders characterised by spasticity of the lower limbs due to pyramidal tract dysfunction. Spastic paraplegia is a neurological syndrome that may be seen in numerous conditions that affect the spinal cord, primarily of vascular and inflammatory origin. This syndrome represents 30% of portuguese families with recessive spastic paraplegia.
A populationbased prevalence study was performed in northwestern sardinia between. Rating scale devised for hsp hsp research foundation. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different. All forms cause degeneration of the nerve pathways that carry signals from the brain down the spinal cord to muscles.
Gait phenotypes in paediatric hereditary spastic paraplegia revealed. 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. Hereditary spastic paraplegia hsp is a group of degenerative genetic disorders involving the spinal cord which are characterized by stiffness and progressive weakness of the affected persons legs. Discovery of a new mechanism research published november 24 2015. It has no known treatment, and affected subjects frequently become dependent on a wheelchair during the advanced stage of the disease. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different neurological and systemic. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease, or strumpelllorrain disease. Pure hereditary spastic paraplegia is the most common form of hereditary spastic paraplegia. Hereditary spastic paraplegia an overview sciencedirect. These forms may cause other problems, such as eye problems, lack of muscle control, hearing loss, intellectual disability, dementia, and peripheral nerve disorders.
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. Hereditary spastic paraplegia hsp is a heterogeneous group of diseases little known in clinical practice due to its low prevalence, slow progression, and difficult diagnosis. Chapter differential diagnosis of acquired causes of. 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. Scientists shed light on cause of spastic paraplegia. Hereditary spastic paraplegia associated with epilepsy, mental retardation and hearing impairment. New clues about hereditary spastic paraplegia sciencedaily. Doparesponsive dystonia meningioma of the falx compressive lesions of the spinal cord. Hereditary spastic paraplegia hsp is not a single disease entity.
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. Moreover, the researchers identified a new blood marker. Some patients with reep1 mutations show overlapping signs of hmn5b. Martinez 1, marcondes franca jr1, helio afonso ghizoni teive hereditary spastic paraplegia hsp is a group of neu. 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.
Early in the disease course, there may be mild gait difficulties and stiffness. Hereditary spastic paraplegia hsp is a group of neurodegenerative monogenic disorders characterized by dysfunction of the longer tracts of the spinal cord. Disease onset ranges from infancy to older adulthood. 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. Hereditary spastic paraplegia hsp describes a heterogeneous group of genetic neurodegenerative disorders in which the most severely affected neurons are those of the spinal cord.
In these patients, the spastic paraplegia was associated with cognitive deterioration and affection of the second motor neuron. The disease presents with progressive stiffness spasticity and contraction in the lower limbs. The family with masa syndrome reported by winter et al. These disorders are characterised clinically by progressive spasticity and weakness of the lower limbs, and pathologically by retrograde axonal degeneration of the corticospinal tracts and posterior columns. The diagnosis and the underlying cause can be revealed through a. 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. The hereditary spastic paraplegias hsp are a group of heterogeneous. The term paraplegia means severe weakness in both legs including paralysis. 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 genetic and rare diseases. This culminates in the key clinical aspects of hsp.
Hereditary spastic paraplegia knowledge for medical. Hereditary spastic paraplegia associated with axonal neuropathy. Hereditary spastic paraplegia hsp is a group of clinically and genetically diverse inherited neurodegenerative disorders that cause lower limb spasticity and weakness. May 27, 2016 spastic paraplegia 4 spg4 is the most common type of hereditary spastic paraplegia hsp inherited in an autosomal dominant manner. 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. Complicated hereditary spastic paraplegia due to atpa2. Hereditary spastic paraplegia information page national. In order to combine the advantages of these two methods, we propose the use of. They are classified by their mode of inheritance autosomal dominant, autosomal recessive, or xlinked and by whether the spasticity is the. 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. Jul 08, 2011 new research is yielding clues about hereditary spastic paraplegia hsp, a group of inherited neurological disorders that affect about 20,000 people in the united states. This disorder has many forms and can result from many different types of genetic abnormalities.
Oct 20, 20 the few epidemiological studies conducted to date on the heterogeneous group of hereditary spastic paraplegias hsps indicate a prevalence of 1. 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 radiology reference article. Hereditary spastic paraplegia clinical presentation. Spastic paraplegia type 4 is a pure hereditary spastic paraplegia. Spg4 is characterized by slowly progressive muscle weakness and spasticity stiff or rigid muscles in the lower half of the body. Spg31 on the basis of emerging pathways for spastic paraplegia and conserved protein domains contained in proteins that cause neurodegenerative diseases, zuchner et al.
Spastic paraplegia type 11 is a complex hereditary spastic paraplegia. Scientists at the scripps research institute tsri have discovered that a gene mutation linked to hereditary spastic paraplegia, a disabling neurological disorder, interferes with the normal breakdown of triglyceride fat molecules in the brain. Effects of botulinum toxin injections in patients with. A populationbased prevalence study was performed in northwestern sardinia. Like all hereditary spastic paraplegias, spastic paraplegia type 11 involves spasticity of the leg muscles and muscle weakness. Spasticity, is a term that refers to excessive muscle tone or muscle overactivity, with increased velocitydependent resistance to stretch. 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.
In almost all individuals with this type of spastic paraplegia, the tissue connecting the left and right halves of the brain corpus callosum is. Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. Hereditary spastic paraplegia hsp is a group of inherited disorders, characterized by progressive bilateral lower limb spasticity and, to a lesser extent, muscle. It usually takes place in differential diagnosis of acquired causes of spastic paraplegia 289 table 1 causes differential diagnosis of acquired spastic paraplegia to do diseases not affecting the spinal cord. Mutation in the reep1 gene can also cause distal hereditary motor neuronopathy, type vb hmn5b. Jan 14, 2019 hereditary spastic paraplegia hsp is not a single disease entity. Hereditary spastic paraplegia nord national organization.
Hereditary spastic paraplegia hsp is a group of inherited diseases whose main feature is a progressive gait disorder. Gigli gl, diomedi m, bernardi g, placidi f, marciani mg, calia e, maschio mc, neri g. Hereditary spastic paraplegia hsp is a group of rare, inherited neurological disorders. Hereditary spastic paraplegia hsp or strumpelllorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4. Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with cyp7b1 mutations. Experienced complaints, activity limitations and loss of motor. 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 paraparesis merck manuals consumer version. Spastic paraplegia, epilepsy, and mental retardation in several members of a family. Section v spastic paraplegias differential diagnosis of acquired causes of spastic paraplegia bertrand fontaine summary spastic paraplegia is caused by lesions affecting the upper motor neuron or axons originating from it i.
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 paraplegia hsp, spg loci, strumpelllorrain syndrome, pure and complex forms. Current neurology and neuroscience reports, 2006, 61. This study aims to explore the epidemiological, clinical, and genetic variability of hsps among sardinians, a population of peculiar ethnicity. 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.
Other conditions that cause mobility problems and muscle stiffness and weakness, such as multiple sclerosis and cerebral palsy, need to be ruled out first. Spastic paraplegia 4 spg4 is the most common type of hereditary spastic paraplegia hsp inherited in an autosomal dominant manner. Sir, with great interest, we read the paper by estradacuzcano and colleagues on mutations in the atpa2 gene that they associate with a new form of hereditary spastic paraplegia hsp estradacuzcano et al. People with this condition can also experience exaggerated reflexes hyperreflexia, ankle spasms, higharched feet pes cavus, and reduced bladder. Background autosomal dominant hereditary spastic paraplegia adhsp is mainly caused by mutations in the spg4 gene, which encodes a new member of the aaa adenosine triphosphatases associated with diverse cellular activities protein family spastin. The authors have constructed a brief timeline of major clinical research related to hereditary spastic paraplegia hsp. 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.
We were, however, also surprised not to see any reference to two papers that already associate hsp with atpa2 mutations. Physical therapy in hereditary spastic paraplegia christina maria cop physiotherapist. Its also known as familial spastic paraparesis or strumpelllorrain syndrome. Spastic paraplegia type 4 genetics home reference nih. Pdf hereditary spastic paraplegia due to a novel mutation.
Introduction 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. The few epidemiological studies conducted to date on the heterogeneous group of hereditary spastic paraplegias hsps indicate a prevalence of 1. Hereditary spastic paraplegia symptoms, treatments. The disease presents with progressive stiffness and contraction in the lower limbs. Hsp is caused by defects in genes which code for proteins essential for fast axonal neurotransmission.
Syndrome ofthe month pure hereditary spastic paraplegia ncbi. Clinical features and management of hereditary spastic paraplegia. Bladder dysfunction in hereditary spastic paraplegifink jk. Hereditary spastic paraparesis affects both sexes and may begin at any age.
Mutations in the motor and stalk domains of kif5a in spastic paraplegia type 10 and in axonal charcotmarie. Hsp syndromes have traditionally been classified as either uncomplicated pure or complicated. Hereditary spastic paraplegia hsp is a group of geneticallydetermined disorders characterized by progressive spasticity and weakness of lower limbs. Hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Hereditary spastic paraparesis brain, spinal cord, and. Spastic paraplegia 4 genetic and rare diseases information. Mutations in a newly identified gtpase gene cause autosomal dominant hereditary spastic paraplegia. 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. The spastic paraplegia rating scale a reliable and valid measure of disease severity editors note, oct. 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. Hereditary spastic paraplegia is diagnosed following a thorough clinical examination and the identification of typical symptoms. 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. Hereditary spastic paraplegia is a heterogeneous group of genetic disorders characterized by progressive spasticity and in some patients weakness of the lower extremities.
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