[CITATION][C] Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia
Clinical genetics, 2014•Wiley Online Library
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder
characterized with progressive spasticity and weakness of the lower limbs (pure HSP),
which may be combined with additional neurological manifestations (complicated HSP)(1).
We describe two families with a complicated form of autosomal recessive HSP and report
two novel B4GALNT1 mutations (Fig. 1). Patients and their family members were recruited
using approved written consent. Family I, of Bedouin ancestry, comprised of first cousin …
characterized with progressive spasticity and weakness of the lower limbs (pure HSP),
which may be combined with additional neurological manifestations (complicated HSP)(1).
We describe two families with a complicated form of autosomal recessive HSP and report
two novel B4GALNT1 mutations (Fig. 1). Patients and their family members were recruited
using approved written consent. Family I, of Bedouin ancestry, comprised of first cousin …
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder characterized with progressive spasticity and weakness of the lower limbs (pure HSP), which may be combined with additional neurological manifestations (complicated HSP)(1). We describe two families with a complicated form of autosomal recessive HSP and report two novel B4GALNT1 mutations (Fig. 1). Patients and their family members were recruited using approved written consent. Family I, of Bedouin ancestry, comprised of first cousin parents and 11 children, 4 of whom were affected. The disease onset was at an early age with delayed motor milestones. They achieved independent ambulation around 3years of age, with severe spasticity, hyperextended knees and gait abnormalities. The disease progressed slowly and they retained independent ambulation into their 30s.(a)(b)(c)
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