The hereditary spastic paraplegias (HSPs) comprise a large group of inherited neurologic
disorders. HSP is classified according to the mode of inheritance, the HSP locus when …

Hereditary Spastic Paraplegia Overview - GeneReviews® - NCBI Bookshelf US flag An
official website of the United States government Here's how you know NIH NLM Logo …

Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2 (SPG2) are X-linked
developmental defects of myelin formation affecting the central nervous system (CNS). They …

Pelizaeus-Merzbacher disease (PMD) can now be defined as an X-linked recessive
leukodystrophy that is caused by a mutation in the proteolipid protein (PLP) gene on …

The classification of diseases affecting white matter has changed dramatically with the use
of magnetic resonance imaging. Classical leukodystrophies, such as metachromatic …

Hereditary spastic paraplegia (HSP; also known as familial spastic paraplegia [FSP] and
Strumpell-Lorrain syndrome)[1] is a syndromic designation for inherited disorders in which …

PLP1 is located on the X-chromosome and encodes myelin proteolipid protein (PLP), the
most abundant protein in central nervous system myelin. Generally, point mutations in PLP1 …

Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 are two sides of the
same coin. Both arise from mutations in the gene encoding myelin proteolipid protein. The …

We recently characterized the mitochondrial ornithine transporter (ORNT1), the gene
defective in the hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome, a …

During the past few years, significant advances have been made in elucidating the
mechanisms by which point mutations and altered gene dosages in tetraspan genes cause …