Spastic Paraplegia 80, Autosomal Dominant (SPG80)

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OMIM 57 618418 PS303350 MeSH 44 D015419

MedGen 42 CN258384

OMIM : ⁵⁷ Spastic paraplegia-80 (SPG80) is an autosomal dominant juvenile-onset neurologic disorder characterized by onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs and resulting in difficulty walking or loss of independent ambulation, sometimes as early as the second decade. Some patients may have cerebellar signs and mild cognitive impairment, but most have a pure form of the disorder (summary by Farazi Fard et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). (618418)

MalaCards based summary : Spastic Paraplegia 80, Autosomal Dominant, is also known as spg80. An important gene associated with Spastic Paraplegia 80, Autosomal Dominant is UBAP1 (Ubiquitin Associated Protein 1).

UniProtKB/Swiss-Prot : ⁷⁴ Spastic paraplegia 80, autosomal dominant: 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.

Clinical features from OMIM:

618418

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