Familial spastic paraplegia motor neuron disease toxic myelopathy. Urological dysfunction in patients with hereditary spastic. He had no symptoms from the bladder, and no cognitive or psychiatric symptoms. Hereditary spastic paraplegia hsp is a group of genetically determined. Spastic paraplegia type 3a is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Hereditary spastic paraplegias are divided into two types. Rating scale devised for hsp hsp research foundation.
All forms cause degeneration of the nerve pathways that carry signals from the brain down the spinal cord to muscles. 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. Mutations in the plp1 gene cause spastic paraplegia 2. A pure form of hereditary spastic paraplegia characterized by a childhood to adulthoodonset of slowly progressive lower limb spasticity and hyperreflexia of. These disorders are characterized by progressive muscle stiffness spasticity and the development of paralysis of the lower limbs paraplegia. Hereditary spastic paraplegia information page national. 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, susanne otto md7, stephan klebe md8,9,10, sven klimpe md11,12, constanze gallenmuller md,14,15, delia kurzwelly md16,17, dorothea henkel md18,19 florian rimmele md20,21, henning stolze md9,22, zacharias kohl md23, jan kassubek. Hereditary spastic paraplegia hsp is a group of inherited disorders. Hereditary spastic paraplegia hsp refers to a group of familial diseases that are characterized by progressive degeneration of the corticospinal tracts. 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. Found in spinal shock, flaccid paraplegia and associated cerebellar lesion 4.
Spastic paraplegia type 49 is a complex hereditary spastic paraplegia. Autosomal recessive spastic paraplegia type 26 spg26 is a rare, complex type of hereditary spastic paraplegia characterized by the onset in. Spastic paraplegia 50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development summary by verkerk et al. 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. Lino, md, phd,3 and mayana zatz, phd1 we report an autosomal recessive neurodegenerative disorder in 25 white members from a. Hsp, also called familial spastic paraplegia, was initially referred to as strumpelllorrain disease, a name given for the. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease, or strumpelllorrain disease. Uncomplicated hsp is the most common and is characterized purely by spastic. 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 hsp or strumpelllorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4.
Hereditary spastic paraplegia with mental impairment, thin corpus callosum and. Hereditary spastic paraplegia type 8 neuropathological. Spastic paraplegia, optic atrophy, and neuropathy is linked. Tropical spastic paraparesis and polymyositis a still unfolding story aali introduction the description of a neurological entity termed jamaican peripheral neuritis by strachan 1 in 1888 marked the beginning of more than a century of systematic clinical and scientific investigation into an endemic neurological syn. Rouleau about of spastic paraplegia, a genetic disease that. A genetic analysis for this condition was able to find a linkage with marker d11s1883 on 11q. Spastic paraplegia type 49 often begins with weak muscle tone hypotonia that starts in infancy. In pure hsps, progressive spastic paraplegia is the predominant clinical feature, and it may begin at any age, al. The plp1 gene provides instructions for producing proteolipid protein 1 and a modified version isoform of proteolipid protein 1, called dm20. Case report physical therapy interventions for the patients. Macedosouza, bsc,1 fernando kok, md, phd,1,2 silvana santos, phd,1 simone c. From ghr l1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. It has no known treatment, and affected subjects frequently become dependent on a wheelchair during the advanced stage of the disease.
Click on the link to view information on this topic. Id love to hear if anyone watching also has this condition. Hsp research foundation just another wordpress site. The first page of the pdf of this article appears below. The term paraplegia means severe weakness in both legs including paralysis. Apr 24, 2016 hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons.
The disease presents with progressive stiffness and contraction in the lower limbs. Hereditary spastic paraplegia an overview sciencedirect. To date, the structured rehabilitation programme for the patient with hsp is not documented. This includes genes associated with uncomplicated hsp, as well as genes associated with syndromes for which spastic paraplegia is a commonly. Overlapping molecular pathological themes link charcotmarie. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease. The medical files of 182 eligible patients were screened for this study. Here we present, for the first time we believe, the neuropathological findings in an hsp type. Like all hereditary spastic paraplegias, spastic paraplegia type 11 involves spasticity of the leg muscles and muscle weakness. Lathyrism tocp arsenic contrast media used in radiology intra thecal penicillin spinal anesthesia smonsub acute myelo opotic neuropathy long term enteroquinol, large dose. Hereditary spastic paraplegia romanian journal of morphology. Bladder dysfunction in hereditary spastic paraplegifink jk.
In almost all individuals with this type of spastic paraplegia, the tissue connecting the left and right halves of the brain corpus callosum is. Objectives to describe the gait patterns in hereditary spastic paraparesis and to identify subgroups of patients according to specific kinematic features of walking. It is paralysis or weakness of both lowerlimbs due to bilateral pyramidal tract lesion, most commonly in the spinal cord spinal paraplegia, and less commonly in the brain stem or the cerebral parasagittal region cerebral paraplegia. If symptoms begin in early childhood, they may be nonprogressive and resemble spastic diplegic cerebral palsy. Gait patterns in patients with hereditary spastic paraparesis.
Feb 18, 2016 julie desmarais trepanier, founder of spastic paraplegia. During childhood, spasticity and paraplegia develop and gradually worsen, causing difficulty walking and frequent falls. Spastic paraplegia type 49 genetics home reference nih. Spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by lower extremity spasticity and weakness. Pdf hereditary spastic paraparesis hsp or the strumpelllorrain syndrome is the name given to a heterogeneous group of inherited disorders in which. 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. Natural cure for hereditary spastic paraplegia and. Hereditary spastic paraplegia hsp is a group of clinically and genetically diverse inherited neurodegenerative disorders that cause lower limb spasticity and weakness. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q lucia i. Acute paraplegia weakness or paralysis in the legs is a particular emergency because. Spastic paraplegia 30 spg30 is a neurologic disorder characterized by onset of slowly progressive spastic paraplegia in the first or second decades of life.
Clinical features and management 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. Case report physical therapy interventions for the. Hereditary spastic paraplegia hsp is a genetic disorder characterised by progressive weakness and spasticity of the lower limbs. Spastic paraplegia 7 genetic and rare diseases information. Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Spastic paraplegia definition of spastic paraplegia by. 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. The hereditary spastic paraplegia exome panel involves analysis of exome sequencing data in a predefined set of 60 genes associated with hereditary spastic paraplegia hsp. The disease presents with progressive stiffness spasticity and contraction in the lower limbs. Spastic paraplegia type 2 genetics home reference nih. Genetic testing for spastic paraplegia blueprint genetics.
A 14yearold high school student is admitted to the pediatric neurology service because of the. Amorim, md,2 alessandra starling, phd, 1agnes nishimura, bsc, karina lezirovitz, bsc, angelina m. Als2related disorders involve retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprise a clinical continuum from infantile ascending hereditary spastic paraplegia iahsp to juvenile forms without lower motor neuron involvement juvenile primary lateral sclerosis or jpls to forms with lower motor neuron involvement autosomal. This disorder has many forms and can result from many different types of genetic abnormalities. Hereditary spastic paraplegia type 8 neuropathological findings. Early in the disease course, there may be mild gait difficulties and stiffness. 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.
To investigate hereditary spastic paraplegia hsp in a pediatric brazilian sample. Familial spastic paraplegia familial spastic paraparesis due to mutations in genes encoding for proteins involved in the maintenance of corticospinal tract neurons these mutations cause distal axonopathy of the longest corticospinal. Clinically, they present with lower limb spasticity and weakness. Current neurology and neuroscience reports, 2006, 61. Onset is insidious, mostly in young adulthood, although symptoms may start as early as. Hereditary spastic paraplegia hsp is a group of inherited diseases whose main feature is a progressive gait disorder.
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. Chapter differential diagnosis of acquired causes of. More than 50% of affected individuals have some weakness in the legs and impaired vibration sense at the ankles. If you have problems viewing pdf files, download the. Its also known as familial spastic paraparesis or strumpelllorrain syndrome. Hereditary spastic paraplegia genetic and rare diseases. Spastic paraplegia 12 genetic and rare diseases information. Differentiation of hereditary spastic paraparesis from. Hereditary spastic paraplegia symptoms and signs though the primary feature of hsp is severe, progressive, lower extremity spasticity, in more progressed forms it can be accompanied by other neurological symptoms. Hereditary spastic paraparesis affects both sexes and may begin at any age. This website is maintained by the national library of medicine. Pdf hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental.
Hereditary spastic paraplegia is a genetic recessive disease. These forms may cause other problems, such as eye problems, lack of muscle control, hearing loss, intellectual disability, dementia, and peripheral nerve disorders. The spastic paraplegia rating scale a reliable and valid measure of disease severity editors note, oct. Jan 14, 2019 hereditary spastic paraplegia hsp is not a single disease entity. Spastic paraplegia type 3a genetics home reference nih. Spastic paraplegia1 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. Hereditary spastic paraparesis brain, spinal cord, and. Hatem elshanti, in handbook of clinical neurophysiology, 2004.
Purposes of this study were to describe lower urinary tract symptoms luts and related urodynamic patterns in patients with hereditary spastic paraplegia hsp, and to characterize luts management and associated uronephrological complications. It is distinguishable from other forms of cerebral palsy in that those afflicted with the condition display stiff, jerky movements. 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. Spastic paraplegia 26 genetic and rare diseases information. 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 11 is a complex hereditary spastic paraplegia. Rare families with homozygous mutations, consistent with autosomal recessive inheritance, have also been reported. The national institute of neurological disorders and stroke ninds ninds collects and disseminates research information related to neurological disorders. Hereditary spastic paraplegia hsp is a group of geneticallydetermined. The hsp research foundation is an incorporated, registered australian charity that. Paraplegia in children pdf this is a pdfonly article. Weve put some small files called cookies on your device to make our site work. 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. In approximately 95 percent of cases, an affected person inherits the mutation from one affected parent. Feb 01, 2015 genetics home reference ghr contains information on spastic paraplegia 7. Spastic paraplegia is characterized by an abnormal gait, which is, in most cases, recognizable at first glance. Paraparesis indicates weakness in both legs of lesser severity than paraplegia. Background spastic gait is a key feature in patients with hereditary spastic paraparesis, but the gait characterization and the relationship between the gait impairment and clinical characteristics have not been investigated.
Hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. The probands mother was healthy until her first pregnancy at 25 years of age, where she. Many forms of hereditary spastic paraparesis damage other parts of the body in addition to the spinal cord. Spastic paraplegia is a neurological syndrome that may be seen in numerous conditions that affect the spinal cord, primarily of vascular and inflammatory origin. Affected individuals have unsteady spastic gait and hyperreflexia of the lower limbs.
The diagnosis and the underlying cause can be revealed through a. Paraplegia is impairment in motor and or sensory functions of the lower extremities often including lower part of the trunk. Spastic paraplegia type 11 genetics home reference nih. An apparently sporadic case of adultonset spastic paraplegia is a frequent.
Paraplegia in children pdf this is a pdf only article. 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. Rouleau about of spastic paraplegia, a genetic disease that causes degeneration of. The shuffling gait is probably caused by spasticity of the lower limbs, and all. Hsp syndromes have traditionally been classified as either uncomplicated pure or complicated. For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800 homozygous mutation in the c12orf65 gene can also. Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. Overlapping molecular pathological themes link charcot. 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. Clinical spectrum of hereditary spastic paraplegia in children. Hereditary spastic paraplegia clinical presentation. Hsp can be associated with brisk reflexes, extensor plantar reflexes, and urinary urgency 2. The objective of the study is to illustrate the effectiveness of the structured 8.