/hereditary spastic paraplegia 61

hereditary spastic paraplegia 61

Rare Disease

MONDO:0014304

Also Known As

ARL6IP1 autosomal recessive complex spastic paraplegiaSPG61autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1autosomal recessive spastic paraplegia 61autosomal recessive spastic paraplegia type 61hereditary spastic paraplegia 61hereditary spastic paraplegia type 61spastic paraplegia 61, autosomal recessive

Definition

A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.