Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited
neurodegenerative and neurodevelopmental disorders resulting from primary retrograde …

Abstract Introduction Hereditary Spastic Paraplegia (HSP) represents a complex and
heterogeneous group of rare neurodegenerative disorders that share a common clinical …

Abstract Axonal Charcot-Marie-Tooth disease (CMT) represents an expanding group of
inherited motor and sensory neuropathies in clinical practice. SACS-gene related disorders …

Infantile-onset ascending spastic paralysis (IAHSP)(OMIM# 607225) represents an
extremely rare autosomal recessive neurodegenerative disorder characterized by very early …

The Sotos syndrome is an autosomal dominant disorder characterized by haploinsufficiency
of NSD1 gene, with some individuals affected by epilepsy and, rarely, drug-resistant …

Genetic leukoencephalopathies represent an expanding group of inherited disorders
associated with involvement of brain white matter. Cystic degeneration has been previously …

A 15-year-old Brazilian boy presented with slowly progressive infancy-onset global
amyotrophy and limb-girdle pattern of weakness. His perinatal history and prior motor …

A 38-year-old Brazilian man presented with a two-year history of progressive bilateral
hearing loss, cerebellar ataxia, emotional lability and hypersexuality. A limbic-brainstem …

A 60-year-old Brazilian man gave a 20-year history of progressive bilateral facial weakness.
He was known to have lattice corneal dystrophy. His father, two paternal uncles and a son …

A 40-year-old woman presented with a 5-year history of numbness in hands and feet,
apathy, compulsive behavior, and aggression towards others. Medical history disclosed …