Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. Neurology 2006;67(9):1701-3. Schneider SA, Walker RH, Bhatia KP.[books.google.com]
HSP is classified according to the clinical phenotype as either pure or complex, the latter presenting with neurological and systemic impairments in addition to spastic paraparesis.[journals.lww.com]
CASE PRESENTATION: We describe a Chinese family with ARHSP-TCC. Two daughters of this family presented with a spastic gait and cognitive impairment. Brain imaging of the index patient revealed a thin corpus callosum.[hspersunite.org.au]
If the production of the normal or the abnormal transcript were gender dependent, it might provide an explanation for the sex difference observed in the present family.[jmg.bmj.com]
Hypogonadotropic hypogonadism usually presenting in the first two decades of life Common, but less frequent features: Anterior hypopituitarism.[ncbi.nlm.nih.gov]
., University of Iowa · Peripheral and Autonomic Nervous System Disorders and Pain-Nicholas Maragakis, Johns Hopkins University · Neoplastic and Paraneoplastic Diseases-Lisa DeAngelis, Memorial Sloan-Kettering Cancer Center · Infectious Diseases of the[books.google.com]
Complex spastic paraplegias also affect the structure or functioning of the brain and the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain,[ghr.nlm.nih.gov]
The consequences of abnormal walking pattern cause strain on the ankles, knees, hips, and back and often cause pain in these areas.[rarediseases.org]
She first noticed gait disturbance and spasticity in the lower extremities together with nocturnal leg cramps and pain attacks in the upper limbs at age of 28 years.[omicsonline.org]
She has always had a great interest in movementdisorders with focus on movementdisorder genetics and electrophysiology. She holds a Ph.D. degree in neurosciences from University College London.[books.google.com]
Costeff H, Gadoth N and Apter N (1989) A familial syndrome of infantile optic atrophy, movementdisorder, and spastic paraplegia. Neurology 39: 595–597.[els.net]
) Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia Arch Neurol , 61 (12) , 1867-72 DOI 10.1001/archneur.61.12.1867 , PubMed 15596607 Tallaksen CM , Dietrichs E (2004) [The genetics of movementdisorders--spinocerebellar[ous-research.no]
MovementDisorders. 2008;23(2):228-33. de Niet M, de Bot ST, van de Warrenburg BP, Weerdesteyn V, Geurts AC.[en.wikipedia.org]
MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.[mybiosource.com]
Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.[invitae.com]
0020 Email: naf@ataxia.org National Institute of Neurological Disorders and Stroke (NINDS) PO Box 5801 Bethesda MD 20824 Phone: 800-352-9424 (toll-free); 301-496-5751; 301-468-5981 (TTY) Spastic Paraplegia Foundation, Inc. 7700 Leesburg Pike Ste 123 Falls[ncbi.nlm.nih.gov]
In the current study, we report a consanguineous Turkish family with ARHSP inheritance manifesting white matter abnormalities including TCC with relatively late age of onset.[omicsonline.org]
Homozygosity mapping in two large consanguineous families of Turkish and Norwegian origin mapped the disease gene on chromosome 5q31[ 45 ].[wjgnet.com]
ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree.[ncbi.nlm.nih.gov]
She first noticed gait disturbance and spasticity in the lower extremities together with nocturnallegcramps and pain attacks in the upper limbs at age of 28 years.[omicsonline.org]
Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, musclespasms, and dragging the toes when walking.[mybiosource.com]
Tightness in the legs and leg musclespasm (often at night) are not uncommon. The consequences of abnormal walking pattern cause strain on the ankles, knees, hips, and back and often cause pain in these areas.[rarediseases.org]
She first noticed gait disturbance and spasticity in the lower extremities together with nocturnal legcramps and pain attacks in the upper limbs at age of 28 years.[omicsonline.org]
Additional features included hyper-pigmented skinlesions on shoulder and genitals, conspicuous iris pigmentation and obesity with a body mass index above 33. Figure 1: Brain magnetic resonance imaging of individual II3.[omicsonline.org]
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med.[books.google.com]
With exception of few missense mutations all mutations cause a premature truncation of the protein suggesting “loss of function” as the likely pathogenic mechanism.[omicsonline.org]
A study by Agosta et al suggested that the various neurologic disorders designated as HSP share a common neurodegenerative cascade.[emedicine.medscape.com]
The proband, a 50 year old male (III.6), reported that he had 23 male relatives affected by the same condition, which suggested X linked recessive inheritance.[jmg.bmj.com]
Nevertheless, in all our patients, there was a relationship between the location and severity of white matter changes and the atrophy of the corpus callosum, suggestive of an atrophic process of the corpus callosum.[ajnr.org]
During follow-up, 94% developed sphincter problems, manifesting as urinary as well as fecal incontinence in 44%. Obesity was seen in 14 patients in total (78%), of whom 9 were non-ambulatory.[nature.com]
In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.[mybiosource.com]
He had symptoms of a neurogenic bladder, without incontinence. Electroencephalography (EEG), electromyography (EMG) and nerve conduction velocities (NCV) were normal.[journals.plos.org]
Metabolic ataxias: The subgroup of metabolic ataxias includes disorders characterized by progressive ataxia, recurrent ataxia and ataxia as a minor feature.[wjgnet.com]
Ataxia without neuropathy ( Pure cerebellar ataxia, possibly associated with other symptoms ) ARCA1 (610743) Late onset: 32 y (17–46 y) Pure cerebellar ataxia, late onset, tendon reflexes – SYNE1 (608441) SYNE1 ARCA2 (612016) 4 y (1–11 y) Epilepsy, myoclonus[neupsykey.com]
Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic[ncbi.nlm.nih.gov]
[…] spastic ataxia of Charlevoix-Saguenay Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) Autosomal recessive spastic paraplegia type 11 Autosomal recessive spastic paraplegia type 11 (disorder) Autosomal recessive spastic paraplegia[medicbind.com]
She has received many awards, among others the European Dystonia Society David Marsden Award and the AAN Jon Stolk Award in Movement Disorders for Young Investigators.[books.google.com]
[…] spastic paraplegia 2017 Billable/Specific Code Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by varying degrees of lower limb spasticity, pyramidal weakness, hyperreflexia[medicbind.com]
People with spastic paraplegia type 31 can also experience progressive muscle wasting (amyotrophy) in the lower limbs, exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet ( pes cavus[ghr.nlm.nih.gov]
Hyperreflexia of the lower as well as the upper limbs was also observed. Brain MRI findings were similar to that of patient II3.[omicsonline.org]
Neurological examination disclosed mild spasticity and weakness in the legs, hyperreflexia in all limbs, and bilateral Babinskisign.[bmcmedgenet.biomedcentral.com]
Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinskisign.[journals.plos.org]
Detailed neurological examination showed predominantly bilateral proximal pronounced paresis (3/4) of the lower limbs with hyperreflexia and positive bilateral Babinskisign. He also complains about urinary urgency.[omicsonline.org]
In pure forms, clinical features consist of isolated pyramidal signs, such as brisk reflexes, Babinskisign, spasticity and motor deficit, which can be associated with sphincter disturbances and deep sensory loss.[academic.oup.com]
Furthermore, among the core symptoms of HSP are also included abnormalgait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia. [10] Individuals with HSP can experience extreme fatigue associated with central nervous system[en.wikipedia.org]
Our findings confirm that this is indeed not an uncommon presentation of this disorder and we suggest that SPG7 gene analysis should be included in the diagnostic workup of autosomal recessive PEO, especially if spasticity is present.[journals.plos.org]
Fatemi Oxford University Press, ١٨/٠٨/٢٠١٦ - 1488 من الصفحات The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments[books.google.com]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
Treatment [ edit ] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being.[en.wikipedia.org]
Effects of intensive voice treatment (the Lee Silverman Voice Treatment [LSVT]) on ataxic dysarthria: a case study.[ncbi.nlm.nih.gov]
[…] risk for clinical onset of myasthenia gravis during the postpartum period Neurology , 87 (20) , 2139-2145 DOI 10.1212/WNL.0000000000003339 , PubMed 27770065 Gilhus NE , Kerty E , Løseth S , Mygland Å , Tallaksen C (2016) [Myasthenia gravis - optimal treatment[ous-research.no]
Abstract Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited.[nature.com]
Prognosis: predicting symptoms and course of HSP As noted above, there is significant variation in HSP symptoms and their severity. This limits the certainty of making predictions.[rarediseases.org]
Prognosis [ edit ] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals.[en.wikipedia.org]
[…] inversely correlated with quality of life in a previous study. 31 As the majority of patients in our cohort who met the clinical criteria for HSP did not have a genetic diagnosis, this illustrates the need for studies of clinical parameters which influence prognosis[ng.neurology.org]
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med.[books.google.com]
Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology.[oxfordmedicine.com]
Risch N et al. (1999) A genomic screen of autism: evidence for a multilocus etiology. [ ] 26.[moldiag.com]
Yet, mutations in SPG4/ SPAST represent the most frequent molecular etiology in autosomal dominant (AD) patients and sporadic cases.[bmcmedgenet.biomedcentral.com]
The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.[genecards.org]
Relevant External Links for SPG11 Genetic Association Database (GAD) SPG11 Human Genome Epidemiology (HuGE) Navigator SPG11 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SPG11 No data available for Genatlas for SPG11 Gene Mutations in[genecards.org]
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83.[invitae.com]
[…] hormone deficiency with ataxia Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
Ruano L, Melo C, Silva MC, Coutinho P: The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 2014;42:174-183.[karger.com]
Jorde LB et al. (1990) The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. [ ] 6. Abramson RK et al. (1989) Elevated blood serotonin in autistic probands and their first-degree relatives. [ ] 7.[moldiag.com]
Pathophysiology [ edit ] The major feature of HSP is a length dependent axonal degeneration. [21] These include the crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis.[en.wikipedia.org]
Koenig[ 10 ] proposed a classification of ARCA based on topographical and pathophysiological criteria, while in the next year the group of Filla proposed a pathogenic classification of the hereditary ataxias[ 11 ].[wjgnet.com]
This is the first step towards the identification of a new gene crucial for understanding the underlying pathophysiology of HSP.[academic.oup.com]
Treatment [ edit ] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being.[en.wikipedia.org]
Prevention of Secondary Complications Daily physical therapy is recommended to maintain and improve coordination, muscle strength, and gait; reduce spasticity; and prevent contractures.[ncbi.nlm.nih.gov]