Spastic Paraplegia 82, Autosomal Recessive (SPG82)

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OMIM 56 618770 OMIM Phenotypic Series 56 PS303350 MeSH 43 D015419

MedGen 41 CN263277 SNOMED-CT via HPO 68 13164000 162294008 221360009 228156007 229721007 246586009 247578003 258211005 278849000 29164008 29753000 366575004 397790002 418143002 52522001 563001 609225004 62415009 76976005 86854008 91138005 more

OMIM : ⁵⁶ Autosomal recessive spastic paraplegia-82 (SPG82) is a progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some patients never achieve walking, whereas others lose the ability to walk or walk with an unsteady gait. Additional features include variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Based on the additional abnormalities, the disorder can be classified as a type of complicated SPG (summary by Vaz et al., 2019). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (618770)

MalaCards based summary : Spastic Paraplegia 82, Autosomal Recessive, is also known as spg82. An important gene associated with Spastic Paraplegia 82, Autosomal Recessive is PCYT2 (Phosphate Cytidylyltransferase 2, Ethanolamine). Affiliated tissues include brain, and related phenotypes are intellectual disability and delayed speech and language development

UniProtKB/Swiss-Prot : ⁷³ Spastic paraplegia 82, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. 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. SPG82 is a complicated form characterized by global developmental delay with regression, spastic para- or tetraparesis, epilepsy and progressive cerebral and cerebellar atrophy.

Clinical features from OMIM:

618770

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