Unusual Clinical and Magnetic Resonance Imaging Findings in a Family With Proteolipid Protein Gene Mutation

Abstract

The unusual genetic, magnetic resonance imaging, and clinical findings of this family confirm the wide variability of PLP-related disorders.

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch families

“…Other genetic disorders with X‐linked inheritance, like fragile X, FG, Opitz syndromes and some disorders of cortical development, which can be symptomatic in carrier mothers, were soon excluded on clinical grounds, laboratory investigation and brain neuroimaging. X‐linked PLP gene was tested in patient 1 because of pyramidal signs and slight white matter abnormalities [Battini et al, 2003].…”

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch families

“…Other genetic disorders with X‐linked inheritance, like fragile X, FG, Opitz syndromes and some disorders of cortical development, which can be symptomatic in carrier mothers, were soon excluded on clinical grounds, laboratory investigation and brain neuroimaging. X‐linked PLP gene was tested in patient 1 because of pyramidal signs and slight white matter abnormalities [Battini et al, 2003].…”

Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis

“…Adult patients with SPG2, as well as clinically asymptomatic obligate carrier mothers of males with classical Pelizaeus-Merzbacher disease, have been described with non-specific periventricular and subependymal white matter changes on MRI, and cystic changes in the basal ganglia (Fig. 2J and K;Battini et al, 2003;Warshawsky et al, 2005;Hurst et al, 2006). A young female presenting with subacute gait disturbance and periventricular white matter lesions was recently described with biallelic pathogenic mutations in SPG11 ( Fig.…”

Hereditary spastic paraplegia associated with dopa‐responsive parkinsonism

“…Hereditary spastic paraplegia (HSP) comprises a heterogeneous group of hereditary neurological disorders featuring progressive weakness of the lower limbs associated with varying degrees of spasticity 1. Autosomal dominant,2–4 recessive,5–7 or X‐linked transmission8 have been recognized, and to date at least 20 different genes have been associated with this group of disorders 9. Here we report on the case of a young adult man with HSP associated with parkinsonian symptoms who responded satisfactorily to levodopa therapy.…”

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch families

“…Other genetic disorders with X‐linked inheritance, like fragile X, FG, Opitz syndromes and some disorders of cortical development, which can be symptomatic in carrier mothers, were soon excluded on clinical grounds, laboratory investigation and brain neuroimaging. X‐linked PLP gene was tested in patient 1 because of pyramidal signs and slight white matter abnormalities [Battini et al, 2003].…”

Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis

“…Adult patients with SPG2, as well as clinically asymptomatic obligate carrier mothers of males with classical Pelizaeus-Merzbacher disease, have been described with non-specific periventricular and subependymal white matter changes on MRI, and cystic changes in the basal ganglia (Fig. 2J and K;Battini et al, 2003;Warshawsky et al, 2005;Hurst et al, 2006). A young female presenting with subacute gait disturbance and periventricular white matter lesions was recently described with biallelic pathogenic mutations in SPG11 ( Fig.…”

Hereditary spastic paraplegia associated with dopa‐responsive parkinsonism

“…Hereditary spastic paraplegia (HSP) comprises a heterogeneous group of hereditary neurological disorders featuring progressive weakness of the lower limbs associated with varying degrees of spasticity 1. Autosomal dominant,2–4 recessive,5–7 or X‐linked transmission8 have been recognized, and to date at least 20 different genes have been associated with this group of disorders 9. Here we report on the case of a young adult man with HSP associated with parkinsonian symptoms who responded satisfactorily to levodopa therapy.…”

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch families

“…Other genetic disorders with X‐linked inheritance, like fragile X, FG, Opitz syndromes and some disorders of cortical development, which can be symptomatic in carrier mothers, were soon excluded on clinical grounds, laboratory investigation and brain neuroimaging. X‐linked PLP gene was tested in patient 1 because of pyramidal signs and slight white matter abnormalities [Battini et al, 2003].…”

Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis

“…Adult patients with SPG2, as well as clinically asymptomatic obligate carrier mothers of males with classical Pelizaeus-Merzbacher disease, have been described with non-specific periventricular and subependymal white matter changes on MRI, and cystic changes in the basal ganglia (Fig. 2J and K;Battini et al, 2003;Warshawsky et al, 2005;Hurst et al, 2006). A young female presenting with subacute gait disturbance and periventricular white matter lesions was recently described with biallelic pathogenic mutations in SPG11 ( Fig.…”

Hereditary spastic paraplegia associated with dopa‐responsive parkinsonism

“…Hereditary spastic paraplegia (HSP) comprises a heterogeneous group of hereditary neurological disorders featuring progressive weakness of the lower limbs associated with varying degrees of spasticity 1. Autosomal dominant,2–4 recessive,5–7 or X‐linked transmission8 have been recognized, and to date at least 20 different genes have been associated with this group of disorders 9. Here we report on the case of a young adult man with HSP associated with parkinsonian symptoms who responded satisfactorily to levodopa therapy.…”