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]

A 19-year-old young man, born out of a nonconsanguineous marriage, presented with a history of progressive difficulty in walking for the past 3 years. [neurologyindia.com]

Hypogonadotropic hypogonadism usually presenting in the first two decades of life Common, but less frequent features: Anterior hypopituitarism. [ncbi.nlm.nih.gov]

• Pathologist

  PMID: 24603320 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

• Diarrhea

  277460) 17 y (2–50 y) Friedreich-like phenotype, retinitis pigmentosa, sometimes head tremor Vitamin E⇓⇓ Alpha-TTP (600415) Alpha-TTP ABL (200100) Malabsorption: since birth Neurological symptoms: childhood–adolescence Friedreich-like phenotype Vomiting, diarrhea [neupsykey.com]

• Myopathy

  With External Ophthalmoplegia, Myopathy, Congenital, With Fiber-Type Disproportion, Centronuclear Myopathy, Congenital Multicore Myopathy With External Ophthalmoplegia, Congenital Myopathy With Myasthenic-Like Onset AD,AR 97.63 733 of 746 SCN4A Congenital [igenomix.es]

  […] due to VCP mutation Cerebellar ataxia, Cayman type Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Spastic paraplegia - Paget disease of bone Congenital bilateral absence of vas deferens Cystic fibrosis Hereditary chronic [csbg.cnb.csic.es]

  […] with CNV PGxome $1490 Autosomal Dominant Polycystic Kidney Disease via PKD2 Gene Sequencing with CNV Detection Sequencing with CNV PGxome $890 Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy [preventiongenetics.com]

  […] dementia and/or amyotrophic lateral sclerosis 3 Frontotemporal lobar degeneration with ubiquitin-positive inclusions Goiter familial due to TTF1 defect Hereditary benign chorea Hereditary motor and sensory neuropathy type IIc - HMSN2C Inclusion body myopathy [agdx.portal.cartagenia.com]

  STUB1 (615768) 8 months–49 y Cerebellar ataxia, UMN, intellectual deficiencies, hypogonadism – STUB1 (607207) CHIP Salih ataxia (615705) Epilepsy, mental retardation – KIAA0226 (613516) Rundataxin MSS (248800) Since birth Bilateral congenital cataract, myopathy [neupsykey.com]

• Macrocephaly

  Generalized juvenile polyposis / juvenile polyposis coli Hereditary hemorrhagic telangiectasia Idiopathic aplastic anemia Idiopathic pulmonary fibrosis Isolated delta-storage pool disease Juvenile polyposis of infancy Laron syndrome Lhermitte-Duclos disease Macrocephaly-autism [csbg.cnb.csic.es]

• Spastic Paraplegia

  Company Science NGS Panel – Genetic Testing for Spastic Paraplegia Hereditary Spastic Paraplegia (HSP), Spastic paraplegia, SPG, Familial Spastic Paraplegia, Hereditary Spastic Paraparesis, Strumpell-Lorrain Syndrome Hereditary Spastic Paraplegia (HSP [centogene.com]

  Spastic paraplegia type 31 is one of a group of genetic disorders known as hereditary spastic paraplegias. [ghr.nlm.nih.gov]

  Keywords Hereditary Spastic Paraplegia Spastic Paraparesis Primary Lateral Sclerosis Spastic Gait Hereditary Spastic Paraparesis These keywords were added by machine and not by the authors. [link.springer.com]

• Ataxia

  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]

  […] 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]

• Peripheral Neuropathy

  Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting), hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia [ncbi.nlm.nih.gov]

  Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal [genecards.org]

  Clinically, HSPs can be divided into two main groups: uncomplicated (pure) and complicated (complex) forms depending on the presence of other neurological features including ataxia, peripheral neuropathy, cognitive impairment, epilepsy, amyotrophy, retinopathy [medicbind.com]

  Five patients (2 from family I, 2 from family II, and 1 from family IV) had a peripheral neuropathy diagnosed by neurography and electromyography consisting of axonal motor neuropathy. [ajnr.org]

• Hyperreflexia

  […] 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]

• Encephalopathy

  AD 99.94 25 of 25 CASK Nonspherocytic Hemolytic Anemia, Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, Early Infantile Epileptic Encephalopathy X,XR,XD,G 99.98 NA of NA CCDC47 Trichohepatoneu- rodevelopmental Syndrome AR [igenomix.es]

  […] hereditary motor neuropathy type 5 - DHMN Dysautonomia familial - Riley Day syndrome Dystonia 1 torsion - DYT1 Dystonia 11 myoclonic - DYT11 Dystonia 6 torsion - DYT6 Dystonia-parkinsonism, rapid-onset - DYT12 Dystonia-Parkinsonism, X-linked - DYT3 Epileptic encephalopathy [agdx.portal.cartagenia.com]

  3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy [centogene.com]

  Exp Res, 17 (2), 246-52 DOI 10.1111/j.1530-0277.1993.tb00757.x, PubMed 8488962 Tallaksen CM, Bell H, Bøhmer T (1993) Thiamin and thiamin phosphate ester deficiency assessed by high performance liquid chromatography in four clinical cases of Wernicke encephalopathy [ous-research.no]

  Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. [ncbi.nlm.nih.gov]

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]

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]

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]

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]

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]

Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology. [oxfordmedicine.com]

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]

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]