Nature

Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31–14.1

Autosomal recessive ulcero-mutilating neuropathy with spastic paraplegia is a very rare disease since only few cases were described up to date. We report in this study a consanguineous Moroccan family ...
Nature

KCC3 axonopathy: neuropathological features in the central and peripheral nervous system

Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC, Online Mendelian Inheritance in Man #218000), also known as ACC associated with peripheral neuropathy ...
The American Journal of Managed Care

Study Assesses Age-Related Sensory Neuropathy in SMA

Sensory nerve action potential amplitudes decreased as patients aged in a cohort of spinal muscular atrophy (SMA) type 1 patients compared with a healthy, age-matched control group. Spinal muscular ...
Labroots

Giant Axonal Neuropathy: Promising Advances in Gene Therapy

Giant axonal neuropathy (GAN) is a rare, autosomal recessive neurodegenerative disorder, characterized by a spectrum of symptoms and a challenging prognosis. Now, a study published recently in the New ...
EurekAlert!

Experimental gene therapy for giant axonal neuropathy shows promise in NIH clinical trial

An investigational gene therapy for a rare neurodegenerative disease that begins in early childhood, known as giant axonal neuropathy (GAN), was well tolerated and showed signs of therapeutic benefit ...