Disease Index

hereditary spastic paraplegia that has material basis in variation in the chromosome region 14q12-q21

hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq24-q25

hereditary spastic paraplegia that has material basis in mutation in the FA2H gene on chromosome 16q23.1

hereditary spastic paraplegia that has material basis in variation in the chromosome region 12q23-q24

hereditary spastic paraplegia that has material basis in variation in the chromosome region 8p21.1-q13.3

hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15

This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting

hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has material basis in mutation in the ATL1 gene on chromosome 14q22

hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has material basis in mutation in the SPAST gene on chromosome 2p22

hereditary spastic paraplegia that has material basis in variation in the chromosome region 11p14.1-p11.2

hereditary spastic paraplegia that has material basis in mutation in the SLC33A1 gene on chromosome 3q25.31

hereditary spastic paraplegia that has material basis in mutation in the C19ORF12 gene on chromosome 19q12

gene (1q41-q42) encoding the gap junction gamma-2 protein

hereditary spastic paraplegia that has material basis in mutation in the NT5C2 gene on chromosome 10q24

gene (9p13.2) encoding non-lysosomal glucosylceramidase.

hereditary spastic paraplegia that has material basis in mutation in the AP4B1 gene on chromosome 1p13

hereditary spastic paraplegia that has material basis in mutation in the AP5Z1 gene on chromosome 7p22.1

hereditary spastic paraplegia that has material basis in mutation in the TECPR2 gene on chromosome 14q32

hereditary spastic paraplegia that has material basis in mutation in the AP4M1 gene on chromosome 7q22.1

hereditary spastic paraplegia that has material basis in mutation in the AP4E1 gene on chromosome 15q21

hereditary spastic paraplegia that has material basis in mutation in the AP4S1 gene on chromosome 14q12

gene (8p22) encoding vacuolar protein sorting-associated protein 37A

gene (8p11.23) encoding phospholipase DDHD2.

gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.

hereditary spastic paraplegia that has material basis in mutation in the CYP2U1 gene on chromosome 4q25

gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.

hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has material basis in mutation in the CYP7B1 gene on chromosome 8q12

hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has material basis in mutation in the NIPA1 gene on chromosome 15q11.2

gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.

hereditary spastic paraplegia that has material basis in mutation in the ERLIN1 gene on chromosome 10q24