The coexistence of multiple sclerosis and hereditary spastic. We studied two female and two male adult patients from two norwegian families with a combination of. Hereditary spastic paraparesis hsp is a heterogeneous group of inherited disorders, with prevalence ranged from 4. Natural cure for hereditary spastic paraplegia and. Pdf spg20 mutation in three siblings with familiar. Hereditary spastic paraplegia hsp is a group of inherited diseases whose main feature is a progressive gait disorder. Previously described radiologic findings included nonspecific brain abnormalities such as brain atrophy and white matter lesions, as well as atrophy of the spinal cord. Spastic paraplegia gene 7 in patients with spasticity and. To date, more than 30 different loci for hsp, termed spastic paraplegia genes, have been. Spastic paraplegia article about spastic paraplegia by the. To date, the structured rehabilitation programme for the patient with hsp is not documented. Clinically, they present with lower limb spasticity and weakness. Ernrnd is one of the 24 european reference networks erns approved by the ern board of member states. Id love to hear if anyone watching also has this condition.
The disease presents with progressive stiffness spasticity and contraction in the lower limbs. Neurogenic bladder dysfunction is a well recognised problem in patients with hsp but it has not yet been described systematically in the literature. Clinical features and management of hereditary spastic paraplegia. Spastic paraplegia type 7 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. Spg4 is characterized by slowly progressive muscle weakness and spasticity stiff or rigid muscles in the lower half of the body. Background hereditary spastic paraplegia hsp comprises a group of rare neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the legs. People with this condition can also experience exaggerated reflexes hyperreflexia, ankle spasms, higharched feet pes cavus, and reduced bladder. Merge mutant cdnas are expressed with a pattern similar to the wild type. Overlapping molecular pathological themes link charcot. 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. Hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. 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 nerve fibers. The coexistence of multiple sclerosis and hereditary.
Mr imaging findings in autosomal recessive hereditary. Spastic paraplegia definition of spastic paraplegia by. Click on the link to view a sample search on this topic. 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. Spastic paraplegia type 7 is associated with multiple mitochondrial dna deletions. The mechanism whereby paraplegin mutations cause disease is unknown.
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. These disorders are characterized by progressive muscle stiffness spasticity and the development of paralysis of the lower limbs paraplegia. 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. The plp1 gene provides instructions for producing proteolipid protein 1 and a modified version isoform of proteolipid protein 1, called dm20. The aim of this study was to provide an evidential overview. Hereditary spastic paraplegia is a genetic recessive disease. In uncomplicated hereditary paraplegia, patients usually experience mostly muscle weakness and stiffness in the legs. Hypoxicischemic encephalopathy of the term newborn accounts for a. Bladder dysfunction in hereditary spastic paraplegia. Hereditary spastic paraplegias are divided into two types. Hence, it is not surprising that genetic mutations leading to impaired cns myelination would have spastic paraplegia as a manifestation blackstone, 2012. Functional effects of botulinum toxin typea treatment and subsequent stretching of spastic calf muscles.
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. Spastic paraplegia type 11 is a complex hereditary spastic paraplegia. Rouleau about of spastic paraplegia, a genetic disease that causes degeneration of. Pdf hereditary spastic paraplegia and evanss syndrome. Hereditary spastic paraplegia hsp is a group of inherited diseases of the central nervous system cns, whose primary feature is the progressive bilateral lower extremity spastic weakness, due. Spg20 mutation in three siblings with familiar hereditary spastic paraplegia authors. From ghr l1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. Hsp research foundation just another wordpress site. Pdf novel type of complicated autosomal dominant hereditary. Spastic paraplegia 11 spg11 is a form of hereditary spastic paraplegia. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles.
When omd is combined with blepharospasm, it may be referred to as meiges syndrome named after henri meige, the french neurologist who first described the symptoms in detail in 1910. Zfyve26spastizin and spg11spatacsin encode 2 large proteins that are mutated in hereditary autosomalrecessive spastic paraplegia paraparesis hsp type 15 arspg15 and type 11 arspg11, respectively. The shuffling gait is probably caused by spasticity of the lower limbs, and all. Hereditary spastic paraparesis hsp comprises a clini. 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. Spastic paraplegia type 4 is a pure hereditary spastic paraplegia. Mutations in the plp1 gene cause spastic paraplegia 2. Spastic paraplegia type 4 genetics home reference nih. Pubmed is a searchable database of medical literature and lists journal articles that discuss spastic paraplegia 7. Lathyrism tocp arsenic contrast media used in radiology intra thecal penicillin spinal anesthesia smonsub acute myelo opotic neuropathy long term enteroquinol, large dose. At the start, patients may find it difficult to walk, climb stairs, or balance. Spastic paraplegia type 3a genetics home reference nih.
One subject had spastic paraplegia onset age 60 accompanied by ataxia, retinopathy, neuropathy and parkinsonism. Pdf the coexistence of multiple sclerosis and hereditary spastic. Pdf interaction of two hereditary spastic paraplegia. Apr 24, 2016 hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Rapid deterioration of functional motor ability followed the development of evanss syndrome. The atl1 gene provides instructions for producing a protein called atlastin1. Spastic paraplegia 1 is usually called masa syndrome, the designation originally suggested by bianchine and lewis 1974, because the main clinical features are summarized by the acronym masa mental retardation, aphasia, shuffling gait, and adducted thumbs. Spastic paraplegia is characterized by an abnormal gait, which is, in most cases, recognizable at first glance. Hereditary spastic paraplegia hsp or strumpelllorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4. Like all hereditary spastic paraplegias, spastic paraplegia type 11 involves spasticity of the leg muscles and muscle weakness. The spastic paraplegia rating scale a reliable and valid measure of disease severity editors note, oct.
The finding that matp6 mutations can present as progressive spastic paraplegia underscores observations that at least two other hsp genes encode mitochondrial proteins spg7paraplegin and spgchaperonin 60heat shock protein, 37,155. The spastic paraplegia rating scale sprs endorsed by ernrnd. Spastic paraplegia as a symptom of dysmyelination in the cns is fairly common. Its also known as familial spastic paraparesis or strumpelllorrain syndrome. Hereditary spastic paraplegia hsp refers to a group of familial diseases that are characterized by progressive degeneration of the corticospinal tracts. Hereditary spastic paraparesis hsp is characterized clinically by progressive spasticity. 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 hereditary spastic paraplegia diagnosis. Spastic paraplegia 11 genetic and rare diseases information. If you have problems viewing pdf files, download the latest version of adobe reader. Biallelic mutation in the spg11 gene can also cause autosomal recessive juvenileonset amyotrophic lateral sclerosis5 als5. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease.
A group of degenerative, neurological disorders chiefly affecting upper motor neurons and principally causing progressive spastic weakness of the legs. The hsp support group helps people diagnosed with 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. Spastic paraplegia, onset in childhood through sixth decade, variably complicated by thin corpus callosum, cognitive impairment usually, white matter abnormalities, and neuropathy. Mutations in spastic paraplegia gene 7 spg7 mim 602783 are responsible for spg7 hereditary spastic paraparesis, the first autosomal hereditary spastic paraplegia for which the causative gene was identified casari et al. Spastic paraplegia type 11 genetics home reference nih. It is also known as brueghels syndrome and oral facial dystonia. Bladder dysfunction in hereditary spastic paraplegifink jk. Autosomal recessive spastic paraplegia 35 is a complicated form of spg characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Intrauterine disease, usually malformations, is the cause of most spastic quadriplegia. Hereditary spastic paraplegia information page national.
Leila dardour 1, filip roelens 2, valerie race 1, erika souche 1, maureen holvo et 1, koen devriendt 1. The objective of the study is to illustrate the effectiveness of the structured 8. Functional assessment of lower extremities in hereditary spastic. In almost all individuals with this type of spastic paraplegia, the tissue connecting the left and right halves of the brain corpus callosum is.
Disease onset ranges from infancy to older adulthood. Spastic paraplegia 4 spg4 is the most common type of hereditary spastic paraplegia hsp inherited in an autosomal dominant manner. Additionally, the tissue connecting the left and right halves of. Atlastin1 is produced primarily in the brain and spinal cord central nervous system, particularly in nerve cells neurons that extend down the spinal cord corticospinal tracts. The term paraplegia means severe weakness in both legs including paralysis. These conditions vary in severity and include, from most severe to least, xlinked hydrocephalus with stenosis of the aqueduct of sylvius hsas, masa syndrome, spastic paraplegia type 1, and xlinked complicated corpus callosum agenesis. Hereditary spastic paraplegia support group facebook. Anesthetic management of a patient with hereditary spastic. The hereditary spastic paraplegia hsp is a progressive neurodegenerative condition presenting with lower limb spasticity, weakness and axonopathy of the long corticospinal tracts 5. Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial proteins. Spastic quadriplegia an overview sciencedirect topics. Hereditary spastic paraparesis affects both sexes and may begin at any age.
Hereditary spastic paraplegia nord national organization. Hereditary spastic paraplegia hsp is a disorder characterized by degeneration of the corticospinal tracts and posterior column of the spinal cord. Case report physical therapy interventions for the patients. Hereditary spastic paraplegia hsp is a diverse group of singlegene disorders characterized by retrograde degeneration of the long axonal fibers of the corticospinal tracts and posterior columns of the spinal cord. 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. The term double hemiplegia is applied if the arms are worse than the legs. Hereditary spastic paraparesis merck manuals consumer version. Familial spastic paraplegia motor neuron disease toxic myelopathy. Apr 29, 2020 there are two general classifications of hereditary spastic paraplegia the pure or uncomplicated type and the complex or complicated type. Hereditary spastic paraplegia hsp is a group of neu rodegenerative monogenic disorders characterized by dysfunction of the longer tracts of the spinal cord.
Hereditary spastic paraplegia an overview sciencedirect. Request permission export citation add to favorites track citation. Spastic paraplegia is caused by lesions affecting the upper motor neuron or axons originating from it, in the corticospinal, also termed pyramidal, tract. Hereditary spastic paraplegia is a neurodegenerative disorder. It has no known treatment, and affected subjects frequently become dependent on a wheelchair during the advanced stage of the disease. Hereditary spastic paraplegia spg8 mutations impair cav1dependent, integrinmediated cell adhesion seongju lee1,2, hyungsun park2, pengpeng zhu1, soonyoung jung3,4, craig blackstone1, jaerak chang1,3,4 mutations in washc5 also known as kiaa0196 cause autosomal dominant hereditary spastic paraplegia hsp type spg8. This document was supported by and done in the framework of the european reference network for rare neurological diseases ernrnd. We previously have reported that arspg15related zfyve26 mutations lead to autophagy defects with accumulation of immature autophagosomes. Clinical and genetic study of hereditary spastic paraplegia in canada.
Hereditary spastic paraplegia hsp includes a large and diverse group of genetic disorders whose main feature is progressive spasticity and weakness in the lower limbs, as a result of continuous distal axonopathy caused by defects in the mechanisms that transport proteins and substances along the axons 90, 91. Two brothers with hereditary spastic paraplegia and evanss syndrome are recorded. Genetic types of hereditary spastic paraplegia hsp. Hereditary spastic paraplegia primary lateral sclerosis what is it. There was rapid progression over the following 2 to 4 years with steadily increasing lower and then upper limb spasticity with hyperreflexia and extensor plantar responses, resulting in. Spastic quadriplegia, also known as spastic tetraplegia, is a subset of spastic cerebral palsy that affects all four limbs both arms and legs compared to quadriplegia, spastic tetraplegia is defined by spasticity of the limbs as opposed to strict paralysis. 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 is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Children with these disorders may have developmental delays, moderate to severe intellectual disability, impaired or absent speech, small head size microcephaly, seizures, and progressive motor symptoms.
Hereditary spastic paraplegia hsp is a group of geneticallydetermined disorders characterized by progressive spasticity and weakness of lower limbs. The key diagnostic clinical findings are of lower limb spasticity and pyramidal weakness, hyperreflexia and extensor plantar responses. In pure hsps, progressive spastic paraplegia is the predominant clinical feature, and it may begin at any age, al. Ap4associated hereditary spastic paraplegia ap4hsp is a group of slowlyprogressing neurodegenerative disorders. It is actually a combination of two forms of dystonia, blepharospasm and oromandibular dystonia omd. To describe the clinical, genetic, and epidemiologic features of hereditary spastic paraplegia hsp in canada and to. Hereditary spastic paraplegia genetic and rare diseases. Hereditary spastic paraplegia support group posts facebook. 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. However, hereditary spastic paraplegia are widely known to be clinically and genetically heterogeneous diseases with 50 different chromosomal loci. Spastic paraplegia type 7 is associated with multiple. Affected individuals presented between 6 and 11 years with foot drop and difficulty walking.
Rating scale devised for hsp hsp research foundation. Also known as familial spastic paraplegia or paraparesis fsp and strumpelllorrain syndrome. Further investigations are needed to combine the data to provide a more. Spastic paraplegia type 2 genetics home reference nih. Hereditary spastic paraplegia hsp is a genetic disorder characterised by progressive weakness and spasticity of the lower limbs. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease, or strumpelllorrain disease. Spastic paraplegia type 5 spg5 is a rare subtype of hsp caused by recessive mutations in cyp7b1 encoding oxysterol7. Chapter differential diagnosis of acquired causes of. Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. A novel syndrome combining thyroid and neurological abnormalities is associated with. Early in the disease course, there may be mild gait difficulties and stiffness.
Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. 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. May 31, 2016 spastic paraplegia 11 spg11 is a form of hereditary spastic paraplegia. Current insights into familial spastic paraparesis functional. Pdf multiple sclerosis ms is a chronic disease characterized by multiple areas of central. 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. 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. Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. Abstract background pathogenic variants in the spastic paraplegia type 7 gene cause a complicated hereditary spastic paraplegia phenotype. In addition, discovery of matp6 mutationrelated progressive complicated spastic paraplegia is the first. Overlapping molecular pathological themes link charcotmarie. Feb 18, 2016 julie desmarais trepanier, founder of spastic paraplegia. Often, subjects and their families feel alone and frustrated with the inability to quickly obtain information.
Pdf hereditary spastic paraplegia hsp is one of the most genetically heterogeneous neurological disorders. Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. Hsp, also called familial spastic paraplegia, was initially referred to as strumpelllorrain disease, a name given for the. Current neurology and neuroscience reports, 2006, 61. The known recessive spg loci, spg5a, spg7, as well as xlinked types of spastic paraplegia, spg1 and spg2, were excluded in 7 families. Paraparesis indicates weakness in both legs of lesser severity than paraplegia. 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. Mutations in the atl1 gene cause spastic paraplegia type 3a. The disease presents with progressive stiffness and contraction in the lower limbs. These neurons send electrical signals that lead to voluntary muscle.
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