Interferes with fast axonal transport
Research Highlights
Axonal degeneration in HSP
Link between different classes of HSP proteins
SPG11 mutations observed in HSP, ALS and CMT
Common mechanism of lipid accumulation in lysosomes
Impairment of Atlastin protein causes SPG3A type HSP
Important role in the regeneration of neurons disrupted
So-called Junk DNA not really junk
Junk DNA mutations found to cause HSP
More than 60 mutations exist for SPG3A HSP
Can’t predict symptom profile in this HSP type
New HSP genetic findings
From Mali, Norway, Germany, Qatar, Italy, Turkey, Saudi Arabia, Pakistan, USA, Poland
Mitochondrial dysfunction in SPG31 HSP
Function restored in cell samples
Two siblings with blood disorder and HSP
Both conditions autosomal recessive inheritance
Large national HSP database in Canada
Valuable resource for much-needed research