Spastic Paraplegia 52, Autosomal Recessive (SPG52)

Alias:

Spg52

Hereditary Spastic Paraplegia 52

Cpsq6

Cerebral Palsy, Spastic Quadriplegic, 6, Formerly

Autosomal Recessive Spastic Paraplegia 52

Cerebral Palsy, Spastic Quadriplegic 6

Spastic Quadriplegic Cerebral Palsy 6

Cpsq6, Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spastic Paraplegia 52, Autosomal Recessive, also known as spg52, is related to spastic paraparesis and paraplegia, and has symptoms including muscle spasticity An important gene associated with Spastic Paraplegia 52, Autosomal Recessive is AP4S1 (Adaptor Related Protein Complex 4 Subunit Sigma 1). Affiliated tissues include brain, and related phenotypes are focal-onset seizure and febrile seizure (within the age range of 3 months to 6 years)

Related ID：

MALACARDS：SPS122

OMIM：614067

MESH：D002547