Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy

MeSH terms

• Adult
• Arginine / genetics*
• Female
• Heat-Shock Proteins / genetics*
• Histidine / genetics*
• Humans
• Intellectual Disability / diagnosis*
• Intellectual Disability / genetics*
• Italy
• Muscle Spasticity / diagnosis*
• Muscle Spasticity / genetics*
• Mutation, Missense / genetics*
• Optic Atrophy / diagnosis*
• Optic Atrophy / genetics*
• Sicily
• Spinocerebellar Ataxias / diagnosis*
• Spinocerebellar Ataxias / genetics*