There have been great strides in our knowledge of this group of disabling disorders. Hereditary spastic paraplegia hsp is a group of neu rodegenerative monogenic disorders characterized by dysfunction of the longer tracts of the spinal cord. When should hereditary spastic paraparesis be suspected. Health survey of adults with hereditary spastic paraparesis. Hereditary spastic paraplegia hsp, first described in 1880 by strumpell, are a clinically and genetically heterogeneous group of neurological diseases that affects individuals of all age groups causing a degenerative process in corticospinal tracts and posterior columns 2,3. Hereditary cerebellar ataxias hca and hereditary spastic paraplegias hsp are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often. Gastrointestinal and urinary complaints in adults with. Documents hereditary spastic paraplegia community rare. Spastic paraplegia 18 genetic and rare diseases information.
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 information page national. Experienced complaints, activity limitations and loss of motor. Prenatal diagnosis of hereditary spastic paraplegia. Abstract hereditary spastic paraplegia hsp is a group of geneticallydetermined disorders characterized by progressive spasticity and weakness of lower limbs. Coexistence of hereditary spastic paraplegia type 4 and. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease, or strumpelllorrain disease.
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. Spastic paraplegia type 3a accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraplegia cases. Hereditary spastic paraplegias hsps are a group of neurodegenerative disorders which involve the corticospinal tracts and present with distinct spasticity and weakness of the lo. The common associated features, alone or in combination, include cerebellar dysfunction, pseudobulbar palsy, sensory neuropathy, and pes cavus.
Hereditary spastic paraplegia frequently asked questions here are some of the most frequently asked questions and their answers. Spastic paraplegia 5a genetic and rare diseases information. Hereditary spastic paraparesis is a group of inherited neurological diseases characterized. Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders. The disease presents with progressive stiffness and contraction in the lower limbs. Hereditary spastic paraplegia hsp describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs. Somatic sensation was studied in 23 patients from 14 families with hereditary spastic paraplegia. Mr imaging findings in autosomal recessive hereditary. Ophthalmological changes in hereditary spastic paraplegia. The high prevalence of hereditary spastic paraplegia in.
This panel is used for clinical indication r60 adult onset hereditary spastic paraplegia in the nhs genomic medicine service. Unlimited viewing of the articlechapter pdf and any associated supplements and figures. Spastic paraplegia type 55 spg55 is an autosomal recessive complicated hereditary spastic paraplegia. For spg4, the gene most frequently involved in hereditary spastic paraplegias, a novel mutational mechanism was described, which allows detection of an increased number of cases.
Nov 29, 2018 spast mutations are the most common cause of hereditary spastic paraplegia spg4. Hereditary spastic paraplegia hsp or strumpelllorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4. The hereditary spastic paraplegias hsps are no exception, with over 80 spastic gait spg loci now recognized in genes encoding proteins such as spastin, paraplegin and strumpellin. Clinically, the pure forms are distinguished from complicated forms of progression. Biallelic variants in rnf170 are associated with hereditary spastic paraplegia. 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. Pdf doubleblind crossover trial of gabapentin in spg4. 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. Insight into the genetic basis of these disorders is expanding rapidly. Hereditary spastic paraplegia is a diagnosis which covers a range of rare genetic disorders. Clinical features and management of hereditary spastic. May 01, 2016 autosomal recessive spastic paraplegia type 18 spg18 is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia presenting in early childhood associated with delayed motor development, severe intellectual disability and joint contractures. Quantitative sensory testing revealed significantly raised.
Gait adaptability training is possible on the cmill, a treadmill equipped with augmented reality, enabling visual projections to serve as stepping targets or obstacles. Further information on the testing criteria and any overlapping clinical indications can be found within. Spastic paraplegia is classified clinically as nonsyndromic uncomplicated or syndromic complicated. International license, which allows users to download, copy and build upon published articles even for commercial purposes, as long as the author and publisher are properly credited. 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. Adar spastic paraplegia 9a spastic paraplegia 9b rare5 aldh3a2 ar sjogrenlarsson syndrome rare. Spastic paraplegia an overview sciencedirect topics. The hereditary spastic paraplegia hsp is a heteroge in view of this, we decided to undertake a prospective neous group of inherited neurodegenerative disorders doubleblind randomized placebocontrolled crossover characterized by slowly progressive spasticity and trial of a genetically homogenous patient population, weakness of the lower limbs. Pdf hereditary spastic paraplegia hsp or strumpelllorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4. Hereditary spastic paraplegia hsp is a group of inherited disorders, characterized by progressive bilateral lower limb spasticity and, to a lesser extent, muscle. The neuroradiologic hallmarks are thin corpus callosum and periventricular white matter changes.
Dural arteriovenous malformation chiari malformation adrenoleucodystrophy hereditary spastic paraplegia spinocerebellar ataxias vitamin defi ciency b12 and e lathyrism levodoparesponsive dystonia infection syphilis. If you are a patient or carer with a question about living with hsp, about treatments, or other relevant information please email your question to email protected and we will put it to the specialists who have. 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. How people with hereditary spastic paraplegia walk youtube. Hereditary spastic paraplegia information page national institute. Patients present lower limb weakness and spasticity, complicated in complex forms by additional neurological signs. Complex hsp involves additional neurological features. Sep 20, 2011 hereditary spastic paraplegia hsp is a large group of inherited neurologic disorders, in which the prominent feature is a progressive spastic paraparesis. Keywords hereditary spastic paraplegia prevalence sardinia epidemiology introduction the hereditary spastic paraplegias hsps are a group of clinically and genetically heterogeneous neurodegenerative disorders of the motor system characterized by progressive spasticity and. Ophthalmological changes in hereditary spastic paraplegia and. Early in the disease course, there may be mild gait difficulties and stiffness. Hereditary spastic paraplegia or strumpelllorraine syndrome is also known by the name of familial spastic paraplegia. Martinez 1, marcondes franca jr1, helio afonso ghizoni teive hereditary spastic paraplegia hsp is a group of neu. This genetic heterogeneity, with many genes identified in single families only, is associated with significant phenotypic heterogeneity and makes diagnosis.
The global epidemiology of hereditary ataxia and spastic. This is particularly true for hereditary spastic paraplegias, for which 60 genes have curr neurol neurosci rep. Prevalence of hereditary ataxia and spastic paraplegia in. Autonomic dysfunction in hereditary spastic paraplegia. Jan, 2021 hereditary spastic paraplegias hsps are a group of neurodegenerative disorders which involve the corticospinal tracts and present with distinct spasticity and weakness of the lower extremities. Dec 01, 2008 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. Frontiers management of hereditary spastic paraplegia. Autonomic dysfunction in hereditary spastic paraplegia type 4. Hereditary spastic paraplegia hsp is a group of neurodegenerative disorders with familial origin mainly affecting the lower limbs. Apr 16, 2018 background hereditary spastic paraparesis hsp is a group of rare genetic disorders affecting the central nervous system. Jan 07, 2021 background people with hereditary spastic paraplegia hsp experience difficulties adapting their gait to meet environmental demands, a skill required for safe and independent ambulation. Hereditary spastic paraplegia hsp, also called familial spastic paraparesis fsp, refers to a group of inherited disorders that are characterized by progressive.
Also known as hereditary spastic paraparesis, this is a rare group of genetic neurological diseases. Unlimited viewing of the articlechapter pdf and any associated supplements and. Keywords hereditary spastic paraplegia prevalence sardinia epidemiology introduction the hereditary spastic paraplegias hsps are a group of clinically and genetically heterogeneous neurodegenerative disorders of the motor system characterized by progressive spasticity and weakness in the lower limbs 1, 2. Hereditary spastic paraplegia nord national organization. There is no cure for hereditary spastic paraplegia, only treatments which minimally help the symptoms. These disorders are characterised clinically by progressive spasticity and weakness of the lower limbs, and pathologically by retrograde axonal degeneration of the. To characterize the spasticity and range of motion rom in patients with hereditary spastic paraplegia hsp and to correlate these parameters with walking. The symptoms are a result of dysfunction of long axons in the spinal cord. Classification of hsp is based on inheritance pattern, clinical phenotype, and. Spastic paraplegia type 4 spg4 is the most common type of hereditary spastic paraplegia hsp caused by the mutations in the. I am born with hereditary spastic paraplegia and this is how i walk. Nonsyndromic spastic paraplegias are characterized by slowly progressive spasticity and weakness of the lower extremity, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense and. Genetic testing for spastic paraplegia blueprint genetics.
Keywords hereditary spastic paraplegia bladder spg4 satisfaction with care urinary incontinence nocturia. The hereditary spastic paraplegias hsps are inherited neurologic disorders in which the primary symptom is insidiously progressive difficulty walking due to lower extremity weakness and spasticity. Cerebral mri and the familial history of each patient with spastic paraplegia are the minimal clinical elements needed to orient genetic testing. Beyond the described core symptoms, knowledge about the burden of disease for adults with hsp is limited, particularly regarding. Hereditary spastic paraplegia hsp is a general term for an expanding. If pure hsp begins in early childhood, a delay in walking may be seen. The cardinal feature of hereditary spastic paraplegias hsps is lower extremity spasticity and typically more mild weakness due to a length. Pdf hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and. Clinical features and management of hereditary spastic paraplegia. Complicated hereditary spastic paraparesis with cerebral white. Hereditary spastic paraparesis brain, spinal cord, and nerve. Hereditary spastic paraplegia hsp is a syndromic designation for inherited neurologic disorders in which the predominant symptom is lower extremity spastic weakness. Uncomplicated autosomal dominant, autosomal recessive, and xlinked hsp are genetically heterogeneous.
Jul, 2016 background hereditary spastic paraparesis hsp is a rare neurodegenerative condition characterized by slowly progressive spastic weakness of the lower limbs and urinary sphincter dysfunction. Functional assessment of lower extremities in hereditary spastic. Hsp, which is characterized by progressive lower limb weakness, spasticity and hyperreflexia. Pure hsp is limited to lower limb spasticity and urinary voiding dysfunction. Hereditary spastic paraplegia is a clinical diagnosis for which laboratory confirmation is sometimes possible, and careful. Mr imaging findings in autosomal recessive hereditary spastic.
Ghizoni teive1, fabio massaiti iwamoto1, carlos henrique camargo1, iscia lopescendes2, lineu cesar werneck1 abstract machadojoseph disease mjd is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. Mutations in the spg11 gene have been identified to be a major cause of autosomal. Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from. Hereditary spastic paraplegia hsp is a group of inherited diseases whose main feature is a progressive gait disorder. There are medications that are used to limit pain, but then there is a risk of addiction. Hereditary spastic paraplegia neurodegeneration wiley. Hereditary spastic paraplegia hsp is a degenerative neurologic disorder that causes progressive, often severe, spastic weakness in the legs. Hereditary spastic paraplegia adult onset version 1. Pdf autophagy induction in c12orf65 mutationrelated. Hereditary spastic paraplegias follow all modes of inheritance and the pureform autosomal dominant type is the one most commonly reported. Hereditary spastic paraplegia leucodystrophy eg, krabbes metabolic arginase defi ciency. Hereditary spastic paraplegias are a genetically heterogeneous group of neurological disorders. Hereditary spastic paraplegia hsp is a group of geneticallydetermined disorders characterized by progressive spasticity and weakness of lower limbs.
There currently exist no specific therapies for hsp, and treatment is exclusively symptomatic, aimed at reducing muscle spasticity, and improving strength and gait. There is physical therapy, such as stretching and water therapy which help to n extinct on the short term scale, but nothing close to a cure or way to. Spastic paraplegia 10, autosomal dominant or pseudoautosomal, not imprinted, 604187. 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. Georges hospital medical school, london, united kingdom. Complex hsp involves additional neurologic symptoms and signs like ataxia, extra pyramidal signs, polyneuropathy, and cognitive decline. Spastic paraplegia may begin during infancy or be delayed until adolescence. Urinary symptoms, quality of life, and patient satisfaction in genetic.
Targeted high throughput sequencing in hereditary ataxia. Hereditary spastic paraplegia hsp is a diverse group of inherited disorders characterized by progressive lowerextremity spasticity and weakness. Als2 ar infantile onset hereditary spastic paraplegia iahsp rare in iahsp6,7,8,9 ampd2 ar spastic paraplegia 63 rare83 ap4b1 ar spastic paraplegia 47 rare10,11 ap4e1 12,14ar spastic paraplegia 51 rare ap4m1 ar spastic paraplegia 50 rare14,15 ap4s1 ar spastic paraplegia 52 rare. Hereditary spastic paraplegia the disorder not everyone is.
Pdf prenatal diagnosis of hereditary spastic paraplegia. Little is known about the disease burden for adults with hsp. Differentiation of hereditary spastic paraparesis from. Clinical and genetic update of hereditary spastic paraparesis. Biallelic variants in rnf170 are associated with hereditary. Aug 01, 2017 autosomal recessive spastic paraplegia type 5a is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. The term hereditary spastic paraplegia hsp embraces a clinically and genetically heterogeneous group of neurodegenerative diseases. Pdf machadojoseph disease versus hereditary spastic. Jan 22, 2019 the term hereditary spastic paraplegia hsp embraces a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity and weakness of the lower limbs. 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. Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy.
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