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Article
Open AccessExpanding the etiologic spectrum of spastic ataxia syndrome: chronic infection with human T lymphotropic virus type 1
Human T-lymphotropic virus type-1 (HTLV-1) is a neglected infection most often associated with an indolent process. However, a subset of HTLV-1 seropositive patients face the risk to develop life-threatening T...
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Article
Open AccessIncreasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
Spastic ataxias are rare neurogenetic disorders involving spinocerebellar and pyramidal tracts. Many genes are involved. Among them, CAPN1, when mutated, is responsible for a complex inherited form of spastic par...
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Article
Open AccessRare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the ci...
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Article
Open AccessThe cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C
Friedreich ataxia (FRDA) is the most common familial ataxia syndrome in Central and Southern Europe but rare in Scandinavia. Biallelic mutations in SH3 domain and tetratricopeptide repeats 2 (SH3TC2) cause Charco...
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Article
Open AccessNovel Imaging Biomarkers for Huntington’s Disease and Other Hereditary Choreas
Imaging biomarkers for neurodegenerative disorders are primarily developed with the goal to aid diagnosis, to monitor disease progression, and to assess the efficacy of disease-modifying therapies in support t...
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Article
Open AccessNovel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19
Spinocerebellar ataxia type 19 (SCA19), allelic with spinocerebellar ataxia type 22 (SCA22), is a rare syndrome caused by mutations in the KCND3 gene which encodes the potassium channel Kv4.3. Only 18 SCA19/22 fa...
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Article
Open AccessAn unusual cause of fatal rapid-onset ataxia plus syndrome
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disorder of the central nervous system caused by reactivation of the JC-virus and is in most cases associated with underlying immunosuppressi...
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Article
POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome
Hyperintensities in the middle cerebellar peduncles (MCP), known as the MCP sign, and progressive late-onset ataxia constitute major characteristics of the fragile X tremor/ataxia syndrome (FXTAS). Here, we de...
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Article
PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation
Premutations in the fragile X mental retardation 1 (FMR1) gene cause fragile X-associated tremor/ataxia syndrome (FXTAS) and FMR1-related primary ovarian insufficiency (POI). Female FMR1 premutation carriers rare...
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Article
Hypospadias as a novel feature in spinal bulbar muscle atrophy
Spinal and bulbar muscle atrophy (SBMA) is an X-linked neuromuscular disorder caused by CAG repeat expansions in the androgen receptor (AR) gene. The SBMA phenotype consists of slowly progressive neuromuscular sy...
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Article
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Jean-Luc Battini, Giovanni Coppola and colleagues identify XPR1 mutations in several families with primary brain calcification. They further show that these mutations alter phosphate export activity, implicating ...
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Article
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Christer Betsholtz, Christine Klein, Maria Sobrido and colleagues report the identification of mutations in the gene encoding PDGF-B that cause idiopathic basal ganglia calcification. They also show that mice ...
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Article
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Familial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated...
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Article
Persistence of viral RNA in the brain of offspring to mice infected with influenza A/WSN/33 virus during pregnancy
Epidemiological studies have indicated an association between influenza A virus infections during fetal life and neuropsychiatric diseases. To study the potential for influenza A virus infections to cause nerv...
