Inès Mademan

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Many neurodegenerative disorders present with sensory loss. In the group of hereditary sensory and autonomic neuropathies loss of nociception is one of the disease hallmarks. To determine underlying factors of sensory neurodegeneration we performed whole-exome sequencing in affected individuals with the disorder. In a family with sensory neuropathy with(More)
We report a broader than previously appreciated clinical spectrum for hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and a potential pathogenic mechanism for DNA methyltransferase (DNMT1) mutations. The clinical presentations and genetic characteristics of nine newly identified HSAN1E kinships (45 affected subjects) were investigated. Five(More)
OBJECTIVE Identification of mutations in the inverted formin-2 (INF2) gene in patients with Charcot-Marie-Tooth (CMT) disease combined with focal segmental glomerulosclerosis (FSGS) in order to expand the genetic and phenotypic spectrum. METHODS We sequenced INF2 in 5 patients with CMT disease and FSGS. Mutations were subsequently screened in family(More)
OBJECTIVE To determine the genetic cause of neurodegeneration in a family with myeloneuropathy. METHODS We studied 5 siblings in a family with a mild, dominantly inherited neuropathy by clinical examination and electrophysiology. One patient had a sural nerve biopsy. After ruling out common genetic causes of axonal Charcot-Marie-Tooth disease, we(More)
Congenital insensitivity to pain with anhidrosis (CIPA), also known as Hereditary Sensory and Autonomic Neu-ropathy type IV (HSAN IV), is a rare autosomal recessive disorder which affects the peripheral nervous system. CIPA is caused by mutations in the NTRK1 gene located on chromosome 1 (1q21-q22) [1]. Mutations cause a loss of function with subsequent(More)
Distal hereditary motor neuropathy is a heterogeneous group of inherited neuropathies characterized by distal limb muscle weakness and atrophy. Although at least 15 genes have been implicated in distal hereditary motor neuropathy, the genetic causes remain elusive in many families. To identify an additional causal gene for distal hereditary motor(More)
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