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]

Spastic paraplegia complex also affect the structure or function of the brain and peripheral nervous system consists of the nerves that connect the brain and spinal cord to muscles and sensory cells that detect sensation like touch, pain, heat, and sound [ivami.com]

[…] and no pain. [neuroweb.us]

Scrotal Pain (Acute) This pathway provides guidance for the imaging investigation of male patients with acute scrotal pain. Bronchiectasis This pathway provides guidance on imaging patients with suspected bonchiectasis. [evidence.nhs.uk]

She has always had a great interest in movement disorders with focus on movement disorder genetics and electrophysiology. She holds a Ph.D. degree in neurosciences from University College London. [books.google.com]

New chapters include ones on reproductive and metabolic disorders with AED use, and on movement disorders. [books.google.ro]

Sherwood, Drosophila Models of Hereditary Spastic Paraplegia, Movement Disorders, 10.1016/B978-0-12-405195-9.00073-1, (1103-1122), (2015). [doi.org]

The disorder has an adult-onset and some affected individuals become wheelchair-bound as the disease progresses. Management of spastic paraplegia includes regular physical therapy, assistive walking devices and ankle-foot orthotics. [cags.org.ae]

Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by {1:de Bot et al., 2013}). [diseaseinfosearch.org]

Disability was assessed on a five-point scale: 1, normal gait or very slight stiffness in the legs; 2, moderate gait stiffness; 3, unable to run but able to walk alone; 4, walk with help; 5, wheelchair-bound. [academic.oup.com]

She became wheelchair bound from the age of 43 years. Examination at the age of 63 years showed severe cerebellar ataxia in truncus and extremities. [journals.plos.org]

Although 95% of patients will show initial improvement following immunosuppressive therapy, the relapse rate is high. 64% improved and are able to return to work and 11% become bedridden or wheelchair bound. [neuroweb.us]

The voice may be hoarse. Genetics Heterozygous mutations in the TLK2 gene (17q23) are responsible for this condition. Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

disease and infectious causes (HIV, Lyme disease, leprosy, hepatitis C). [neuroweb.us]

This process is due to mutations in the KIAA0196 gene, located on the long arm of chromosome 8 (8q24.13). This gene encodes the protein estrumpellina. Although its exact function is unknown, this protein is active throughout the body. [ivami.com]

Some people with IAHSP experience a deletion mutation in their ALS2 gene, located on the long arm of chromosome 2 at 2q33.2. HSP can be transmitted as an autosomal dominant, autosomal reseccive, or x-linked recessive trait. [disabled-world.com]

The tests helped uncover a de-novo mutation (c.1669G A, p.Ala557Thr) in the KIAA0196 gene of one patient, suggesting a diagnosis of spastic paraplegia 8. [cags.org.ae]

The structure of the protein suggests that it may interact with the cellular cytoskeleton. They have identified at least three mutations in the gene KIAA0196 causing the spastic paraplegia type 8. [ivami.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]

On the basis of maximum LOD score of 1.94 at theta (max) 0 with marker D2S367, we obtained suggestive evidence for linkage of ADHSP to SPG4 locus. [link.springer.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]

Patients also suffer from urinary urgency and incontinence. 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]

Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by {1:de Bot et al., 2013}). [diseaseinfosearch.org]

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. [genecards.org]

62% (87/141) Proximal muscle weakness in the lower limbs 54% (113/208) Distal muscle weakness in the lower limbs 36% (64/179) Distal muscle wasting 9% (16/176) Decreased vibration sense at ankles (abolished) 58% (111/208) (11% 24/208) Urinary urgency/incontinence [academic.oup.com]

He had symptoms of a neurogenic bladder, without incontinence. Electroencephalography (EEG), electromyography (EMG) and nerve conduction velocities (NCV) were normal. [journals.plos.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]

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]

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]

Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. [ebi.ac.uk]

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]

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]

Other common symptoms of HSP are urinary urgency and frequency, hyperactive reflexes, difficulty with balance, clonus, Babinski’s sign, diminished vibration sense in the feet, muscle spasms, and congenital foot problems such as pes cavus (high arched [sp-foundationorg.presencehost.net]

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 Babinski sign. [journals.plos.org]

Babinski sign was negative. Video gait analysis was performed, which showed internal rotation of the hips and feet while walking and running. When walking barefooted she dragged the upper side of her toes, this was more pronounced when running. [omicsonline.org]

Clinically it is divided into a 'pure' or uncomplicated form with progressive spasticity as major symptom, associated with brisk reflexes, muscle weakness, positive Babinski's sign and urinary urgency as well as a 'complicated' form accompanied with other [link.springer.com]

Cranial neuropathies, particularly bilateral facial nerve palsy, transverse myelitis, spastic paraparesis, disturbances in micturition, Babinski sign are also observed during this stage. [neuroweb.us]

Walking pattern described as “spastic gait” occurs in which the following elements are present, each to variable degree in different individuals: a) heel strike is shifted forward (landing on the mid-foot or even further forward on the balls of the feet [rarediseases.org]

Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness, hyperreflexia, typically associated with bilateral extensor plantar responses A [centogene.com]

If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. [en.wikipedia.org]

Winner B, Uyanik G, Gross C et al. (2004) Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Archives of Neurology 61: 117–121. [els.net]

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus collasum in spastic gait gene 11 (SPG11). Arch Neurol 2004 ; 61 : 117 –21 Ohnishi J, Tomoda Y, Yokoyama K. [ajnr.org]

Kosofsky, Weill-Cornell University Medical Center · Neurologic Manifestations of Medical Disorders-John C. Probasco, Johns Hopkins University [books.google.com]

Abetalipoproteinemia or Bassen-Kornzweig syndrome : Almost 50% of patients with abetalipoproteinemia present with neurological manifestations. Age of onset is usually in the 1 st or 2 nd decades of life. [neuroweb.us]