Dysphagia is present and Rombergism and pseudoathetosis are observed. NCVs and nerve biopsy reveal demyelinating and axonal features. Anti-GD1b or GQ1b (consistently present) antibodies, IgM paraproteins and cold agglutinins are present. [neuroweb.us]

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]

Strabismus is present in a minority of patients. Systemic Features: Delayed global development, cognitive impairment, and intellectual disability are major features of this form of mental retardation. Hypotonia is present early. [disorders.eyes.arizona.edu]

The sister carrying the R294H variant had an ataxic gait and hand tremor at 3 years, which was not present in her sister. [epilepsygenetics.net]

Hyperkeratotic papules present over the seborrheic area of the body. 2. V-shaped nicking present at the tip of the nails. 3. Red and white longitudinal nail lines. Treatment [ edit ] Treatment of choice for severe cases is oral retinoids. [en.wikipedia.org]

• Weakness

  Affected infants usually exhibit profoundly diminished muscle tone (hypotonia) and muscle weakness at birth. Muscle weakness often affects the arms, legs, and trunk. [rarediseases.org]

  The disease involves spasticity of leg muscles and muscle weakness. People with this condition may also have hyperreflexia, decreased ability to feel vibrations, muscular atrophy and decreased bladder control. [ivami.com]

  […] spasticity and weakness. [sp-foundationorg.presencehost.net]

  […] and which muscles are spastic; the relativity of weakness vs spasticity overall for an individual – in some HSPers, muscle weakness is dominant, while in others spasticity is dominant; presence or absence of bladder and/or bowel continence issues, cognitive [hspersunite.org.au]

• Epilepsy

  Page 349 - RM (1993): Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region. [books.google.com]

  Ingo Helbig is a child neurologist and epilepsy genetics researcher working at the Children’s Hospital of Philadelphia (CHOP), USA. He also leads the epilepsy genetics group at the University of Kiel, Germany. [epilepsygenetics.net]

  Parkinsonism, dementia, and epilepsy are treated according to the respective guidelines. [centogene.com]

  (Arrow) From: Simon Kornberg Canine ACM + Hydromyeli a Spastic Ataxia Syndromes 87 Spastic Ataxia, Recessive Leukoencephalopathy Macular corneal dystrophy, Congenital cataracts & Myopia : Autosomal Marinesco-Sjögren : SIL1; 5q31 Mental retardation & Epilepsy [neuromuscular.wustl.edu]

  Spastic paraplegia epilepsy mental retardation 0 *Intellectual Disability *Spastic Paraplegia, Hereditary. Spastic paraplegia 9, autosomal dominant 0 *Cataract *Growth Disorders *Spastic Paraplegia, Hereditary Bone and Bones/abnormalities. [reference.md]

• Asymptomatic

  Six family members were proven to be carrying the mutation, among which there were two (33[percnt]) cases manifesting spastic dysarthria and leg spasticity, two (33[percnt]) cases with subtle pyramidal signs in legs and two (33[percnt]) asymptomatic cases [neurology.org]

  The father, brother, and uncle were both asymptomatic while the grandfather was wheelchairbound and the mother had abnormal gait. [omicsonline.org]

  The age of onset is variable and asymptomatic, yet affected, elderly relatives may be identified. In HSMN males are commonly affected, whereas females are more often asymptomatic. [neuroweb.us]

  In addition, 14 asymptomatic carriers (mean age at examination 36 ± 18 years, range 19–73 years) were detected by this mutation screening. [academic.oup.com]

  When oral manifestations are present, they primarily affect the palatal and alveolar mucosa, are usually asymptomatic, and are discovered in routine dental examination. [en.wikipedia.org]

• Pallor

  One of three individuals with compound heterozygous mutations had a pigmentary retinopathy with pallor of the optic nerve but no visual abnormalities. Her sister had only optic nerve pallor. The eyes are described as "small" and "close-set". [disorders.eyes.arizona.edu]

  Developmental delay: Global; Hypotonia Upper motor neuron Spasticity: Legs Tendon reflexes: Brisk in Arms & Legs Plantar: Extensor Cerebellum: Nystagmus; Dysarthria (30%); Other usually normal Cognition: Mild mental retardation or Normal Eye: Optic pallor [neuromuscular.wustl.edu]

• Dyspnea

  Diaphragmatic weakness may cause dyspnea or respiratory failure. Palpable nerve thickening (great auricular nerve) is found in 25% of patients. CSF is normal but raised protein (> 1g/l) can be found. [neuroweb.us]

• Nausea

  Ethylene dioxide Herbicide : early manifestations are nausea, vomiting and diarrhea followed by a few days by painful paresthesias in the fingers and toes. Motor NCVs are slowed. [neuroweb.us]

• Vomiting

  Ethylene dioxide Herbicide : early manifestations are nausea, vomiting and diarrhea followed by a few days by painful paresthesias in the fingers and toes. Motor NCVs are slowed. [neuroweb.us]

• Muscle Rigidity

  The symptoms of HSP can include the following: Abnormal gait Delayed walking Repeated tripping or falling Weakness of the leg muscles Rigidity and increased tone of the person's leg muscles People with uncomplicated HSP can also experience additional [disabled-world.com]

• Hypotension

  Autonomic dysfunction includes pupillary reactions, gastrointestinal symptoms, impotence, incontinence and postural hypotension. [neuroweb.us]

  Tendon reflexes: Brisk in legs; Clonus Plantar responses: Extensor Course: Progressive & Disabling in 2nd & 3rd decade in some patients Cerebellar Spastic-Ataxic gait EOM: Gaze-evoked horizontal nystagmus; Upbeat nystagmus; Ocular dysmetria Orthostatic hypotension [neuromuscular.wustl.edu]

• Muscle Spasticity

  Paraplegia 24, Autosomal Recessive: clonus, muscle spasticity, difficulty standing Drugs & Therapeutics for Spastic Paraplegia 24, Autosomal Recessive Genetic Tests for Spastic Paraplegia 24, Autosomal Recessive Anatomical Context for Spastic Paraplegia [malacards.org]

  Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders. Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles. [sp-foundationorg.presencehost.net]

  Fitzsimmons Walson Mellor syndrome 0 *Glomerulonephritis, IGA *Hearing Loss, Sensorineural *Intellectual Disability *Muscle Spasticity *Spastic Paraplegia, Hereditary. [reference.md]

  Spasticity primarily affects muscles of leg extension (quadriceps), knee flexion (hamstrings), hip adduction (bringing the knees together, thigh adductor muscles), and muscles that extend the feet (gastrocnemius-soleus [Achilles tendon]). [rarediseases.org]

  To date, treatment of HSPs is primarily directed symptomatically towards reducing muscle spasticity. [els.net]

• Spastic Paraplegia

  Paraplegia familial spastic type 8 (Spastic paraplegia type 8) - KIAA0196 gene. The spastic paraplegia type 8 is part of a group of genetic alterations known as hereditary spastic paraplegia. [ivami.com]

  Fink JK (1997) Advances in hereditary spastic paraplegia. Curr Opin Neurol 10:313–318 PubMed CrossRef Google Scholar 2. Orlacchio A, Kawarai T, Totaro A et al (2004) Hereditary spastic paraplegia: clinical genetic study of 15 families. [link.springer.com]

  Hereditary spastic paraplegias have a combined prevalence of about 1 to 18 in 100,000 and SPG8 forms only a small percentage of these cases. [cags.org.ae]

  Spastic paraplegia 12, autosomal dominant 0 *Spastic Paraplegia, Hereditary. Spastic paraplegia 11, autosomal recessive 0 *Spastic Paraplegia, Hereditary. Spastic paraplegia 10, autosomal dominant 0 *Spastic Paraplegia, Hereditary. [reference.md]

  Autosomal Recessive, X linked Recessive Hereditary Spastic Paraplegia, Spastic Paraplegia, Hereditary, Paraplegia, Hereditary Spastic, HERED SPASTIC PARAPLEGIA, X-Linked, Spastic Paraplegia, Hereditary, Hereditary X Linked Recessive Spastic Paraplegia [ebi.ac.uk]

• Seizure

  SPG8 is considered a ‘pure’ or ‘uncomplicated’ form of spastic paraplegia as it is not accompanied by other system involvement or other neurologic findings such as seizures, dementia, amyotrophy, extrapyramidal disturbance, or peripheral neuropathy. [cags.org.ae]

  Mental retardation and seizures may also occur in individuals with MEB disease. [rarediseases.org]

  In addition, the sister carrying the R294H variant had several prolonged febrile seizures; her sister only had a single febrile seizure. Spasticity was not noted at age 20 in the sister carrying the pathogenic variant. From EE to HSP. [epilepsygenetics.net]

  Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 6;95(5):579-83. [disorders.eyes.arizona.edu]

  Affects the legs only More common Bladder symptoms may occur eg “urgency” Complicated HSP  Spastic paraplegia with a variety of other problems  Other neurological problems eg ataxia (poor balance) Intellectual disability, dementia, extrapyramidal signs,Seizures [slideshare.net]

• Hyperreflexia

  Paraplegia 24, Autosomal Recessive Summaries for Spastic Paraplegia 24, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia [malacards.org]

  Symptoms include hyperreflexia, extensor plantar responses, degeneration of the lateral corticospinal tracts, decreased vibratory sense in the lower limbs, pes cavus and atrophy of the shins. [cags.org.ae]

  People with this condition may also have hyperreflexia, decreased ability to feel vibrations, muscular atrophy and decreased bladder control. Signs and symptoms of spastic paraplegia type 8 usually appear in early to mid-adulthood. [ivami.com]

  Get Update Overview Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. [diseaseinfosearch.org]

  People with this condition can also experience exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. [ghr.nlm.nih.gov]

• Dysarthria

  DESIGN/METHODS: The proband is a 66 year-old woman manifesting spastic dysarthria and mild gait disturbance for 6 years with the absence of ataxia, whose physical and electrophysiological findings were suggestive of primary lateral sclerosis (PLS). [neurology.org]

  […] amplitude RNS: 2x Increment at 20 Hz Hereditary Spastic Ataxia (SPAX7) ● Autosomal Dominant Epidemiology: 3 families Clnical Onset age: Congenital to 18 years Eye Optic atrophy Pupils: Miosis; Reduced reactivity to light Ptosis Ataxia: Limbs; Gait; Dysarthria [neuromuscular.wustl.edu]

  Fitzsimmons- Guilbert syndrome 0 *Dysarthria *Spastic Paraplegia, Hereditary *Brachydactyly. [reference.md]

  There were subtle cerebellar signs in the upper limbs and mild cerebellar dysarthria. Ophthalmological examination showed normal retinal and macular findings, but visual acuity was 0.3–0.5. [journals.plos.org]

  In specific, isolated families, the following symptoms have included: Mental retardation Dementia Epilepsy Peripheral neuropathy Retinopathy Optic neuropathy Deafness Ataxia Dysarthria Nystagmus Families who experience complicated HSP can also have symptoms [disabled-world.com]

• Lower Extremity Spasticity

  Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. [ebi.ac.uk]

  Clinical Features  Symptoms depend on the type of HSP inherited  Main feature >>> progressive spasticity in the lower limbs, due to pyramidal tract dysfunction  In the lower extremities, spasticity is increased at the hamstrings, quadriceps and ankles [slideshare.net]

  Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal [genecards.org]

It is divided into the following sections: Overview Differential Diagnoses & Workup Treatment & Medication Follow-up Multimedia [hspersunite.org.au]

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]

Clinical characterization of individual and familial history represents the main step during diagnostic workup; however, frequently, few and unspecific data allows a low rate of definite diagnosis based solely in clinical and neuroimaging basis. [link.springer.com]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

Patients show clinical improvement with this treatment. Treatment options for surgery or destructive therapy is for lesions that don't respond to the above treatment. [en.wikipedia.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]

However, HSPers report benefits from treatments as diverse as ankle / foot surgery where tendons are relocated, to fitness and specialised treatment from neurophysiotherapists for muscle strength and range of motion. [hspersunite.org.au]

The information obtained from validated rating scales (SPRS and SF-36), TMS, and serum biomarkers, will allow for the development of treatment trials. [clinicaltrials.gov]

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]

劣性遺伝(1), 統合脳・病態脳(55) 研究分野 内科系臨床医学 / 神経内科学 / 神経科学 / 神経科学一般 / 経歴 テキストで表示 1 2 3 > 2004年 - 2009年 新潟大学 脳研究所 教授 2003年 - 2004年 新潟大学 医学部 教授 2000年 国際医療福祉大学 教授 1999年 国際医療福祉大学 保健学部 教授 1998年 自治医科大学 医学部・神経内科 助教授 論文 テキストで表示 1 2 3 4 > [Clinical features of poor-prognosis [researchmap.jp]

Favorable prognosis is indicated by preserved action potential preserved R1 or reappearance of R1 after 3 weeks. About 15% of patients will have permanent sequelae. [neuroweb.us]

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]

CONCLUSIONS: To our knowledge, this is the first report describing SPG10-HSP outside Europe, which suggests KIF5A mutation is a shared genetic etiology for HSP over ethnicities. [neurology.org]

Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987 ; 41 : 933 –43 ↵ Goldblatt J, Ballo R, Sachs B, et al. X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. [ajnr.org]

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Hum Mutat. 2017 Jun;38(6):621-636. [disorders.eyes.arizona.edu]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Request Information [igenomix.es]

9p13 SPG48 : AP5Z1; 7p22 SPG 62 : ERLIN1; 10q24 SPG 75 : MAG; 19q13 SPG 76 : CAPN1; 11q13 SPG 79 : UCHL1; 4p13 Spastic Ataxia 1, Hereditary (SPAX1) 21 ● Vesicle-related membrane protein 1 (VAMP1; Synaptobrevin; SYB1) ; Chromosome 12p13.31; Dominant Epidemiology [neuromuscular.wustl.edu]

Epidemiology of pertussis and haemophilus influenzae type b disease in Canada with exclusive use of a diphtheria-tetanus-acellular pertussis- inactivated poliovirus-haemophilus influenzae type b pediatric combination vaccine and an adolescent-adult tetanus-diphtheria-acellular [wordscope.com]

Sections address general anatomic, hormonal, epidemiologic, and drug aspects of women's health; neurologic conditions that arise during childhood, pregnancy, adulthood, and old age in females; and particular neurologic conditions that present differently [books.google.ro]

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83. [invitae.com]

"Genetic epidemiology of Darier's disease: a population study in the west of Scotland". Br. J. Dermatol. 146 (1): 107–9. doi : 10.1046/j.1365-2133.2002.04559.x. PMID 11841374. ^ a b Burge SM, Wilkinson JD (July 1992). [en.wikipedia.org]

DESIGN This is an observational study of autosomal dominant forms of hereditary spastic paraplegia progression, pathophysiology, and biomarkers. [clinicaltrials.gov]

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]

Affected patients must undergo regular neurological examinations to evaluate disease progression as well as urological analysis to prevent secondary complications such as urinary tract infections. [cags.org.ae]

Canada with exclusive use of a diphtheria-tetanus-acellular pertussis- inactivated poliovirus-haemophilus influenzae type b pediatric combination vaccine and an adolescent-adult tetanus-diphtheria-acellular pertussis vaccine: Implications for disease prevention [wordscope.com]

Treatment 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 26. Gen. Spas ticity Oral Agents Foc. [slideshare.net]

No treatments are currently available to prevent, stop, or reverse HSP. [sp-foundationorg.presencehost.net]

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]