The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. [genecards.org]

Discs show mild temporal pallor. An EMG/NCS indicated an axonal sensory polyneuropathy. Somatosensory evoked potentials showed an abnormal central response in the right upper limb. [ng.neurology.org]

There is diffuse myelin pallor of crossed and uncrossed corticospinal tracts. In addition, the gracile fasciculi in the centre of the dorsal columns show prominent myelin pallor. Anterior horn cells are normal in number and morphology. [jnnp.bmj.com]

He developed a spastic bladder and pain and numbness in both feet. On examination, the patient exhibited prominent lower extremity spasticity with mild distal muscle weakness and mild weakness of the hip flexors. Cognition was intact. [ng.neurology.org]

As his gait problems progressed, his family noted facial hypomimia and bradykinesia. He developed a spastic bladder and pain and numbness in both feet. [ng.neurology.org]

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

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]

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]

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]

The patient presented for evaluation after he developed a stiff, shuffling gait at age 60, leading to frequent tripping and occasional falls. This gradually progressed to the point where he needed a walker to ambulate. [ng.neurology.org]

gait and adducted thumbs) syndrome, spastic paraplegia 1) neural cell adhesion molecule L1 L1CAM CAML1 CD171 HSAS HSAS1 MASA MIC5 S10 SPG1 308840 6470 lysine demethylase 5C DXS1272E XE169 KDM5C JARID1C MRX13 SMCX 314690 11114 lysosomal trafficking regulator [ukgtn.nhs.uk]

Different mutations in this gene give rise to the syndromes of MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), X-linked hydrocephalus, and X-linked agenesis of the corpus callosum. [jnnp.bmj.com]

As his gait problems progressed, his family noted facial hypomimia and bradykinesia. He developed a spastic bladder and pain and numbness in both feet. [ng.neurology.org]

Charcots studies between 1868 and 1881 were a landmark in the understanding of Parkinsons disease, among other advances he made the distinction between rigidity, weakness and bradykinesia. [wikivisually.com]

Only one of five patients with hereditary spastic paraplegia showed clinical indication of extrapyramidal involvement in the form of subtle bradykinesia and slight resting tremor. [intechopen.com]

On examination, the patient exhibited prominent lower extremity spasticity with mild distal muscle weakness and mild weakness of the hip flexors. Cognition was intact. [ng.neurology.org]

The following individuals are candidates for spastic paraplegia-related gene testing: Individuals with a family history of hereditary spastic paraplegia and presentation of lower extremity spasticity and weakness and other common symptoms Individuals [centogene.com]

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

In family I, the white matter lesions were more prominent in older patients ( Fig 1 A ), in contrast to family III, where the white matter lesions were more prominent in the younger patients. [ajnr.org]

MRI of the brain disclosed white matter lesions affecting the basal ganglia and deep white matter and focal atrophy of the corpus callosum ( figure 1 ), while a full spine MRI was normal. [ng.neurology.org]

There are occasional reports of mild to moderate atrophy of intracranial structures, particularly the corpus callosum, and also of white matter lesions in the cerebral hemispheres. 15 71 79 80 However, marked atrophy or changes in white matter on MRI [jnnp.bmj.com]