Patients did not present with visual impairment as observed in a previously reported SPG57 family (c.316C T (p. [nature.com]

Her neurologic examination disclosed visual impairment but otherwise unremarkable cranial nerves. Her speech was remarkable for scanning dysarthria. Her movements were bradykinetic, and she exhibited limb dystonia. [ng.neurology.org]

Additional features include cerebellar ataxia, peripheral neuropathy, amyotrophy, extrapyramidal symptoms, cognitive impairment, deafness and visual impairment [1]. [journals.plos.org]

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]

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]

Upper limb involvement is relatively uncommon and usually consists of mild hyperreflexia, which may be present early in the disease. A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]

All of them started with symptoms consisting of gait difficulties and weakness in the lower extremities, and their neurologic examination showed an upper motor neuron syndrome predominantly in the lower extremities with weakness, spasticity and hyperreflexia [ajnr.org]

Eymard-Pierre E, Lesca G, Dollet S et al : Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the Alsin gene. Am J Hum Genet 2002; 71 : 518–527. 35. [nature.com]

Lesca G, Eymard‐Pierre E and Santorelli FM (2003) Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 60(4): 674–682. [els.net]

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance CentoMD exclusive variant numbers ( ) ALS2 606352 amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending AR 20 AMPD2 102771 pontocerebellar hypoplasia 9 AR 7 AP4B1 607245 spastic [centogene.com]

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 2003 ; 60 : 674 –82 Marti-Fabregas J, Pujol J. [ajnr.org]

Reflexes were brisk, and he showed ankle clonus and a Babinski sign on the left. [ng.neurology.org]

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]

sign, and scoliosis; within 10 to 15 years of onset, patients have to use wheelchairs. 22 In addition to axonal sensory polyneuropathy, auditory and optic neuropathy are also frequently observed. [elsevier.es]

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

Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance both in human subjects and in models of human diseases. [books.google.de]

GRM1 encodes the metabotropic glutamate receptor mGluR1 which is implicated in the modulation of intracellular Ca 2 levels and neuronal excitability. [wjgnet.com]

The recent discovery of the spastin and paraplegin genes opens a new era of exciting opportunities in which we can begin to investigate the physiology of the motor system and the degenerative process it undergoes, hopefully offering opportunities for [jnnp.bmj.com]