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