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View article: Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis Open
View article: Dominant <i>NARS1</i> mutations causing axonal Charcot–Marie–Tooth disease expand <i>NARS1</i>-associated diseases
Dominant <i>NARS1</i> mutations causing axonal Charcot–Marie–Tooth disease expand <i>NARS1</i>-associated diseases Open
Pathogenic variants in six aminoacyl-tRNA synthetase (ARS) genes are implicated in neurological disorders, most notably inherited peripheral neuropathies. ARSs are enzymes that charge tRNA molecules with cognate amino acids. Pathogenic var…
View article: De Novo and Dominantly Inherited <scp><i>SPTAN1</i></scp> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
De Novo and Dominantly Inherited <span><i>SPTAN1</i></span> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia Open
Background Pathogenic variants in SPTAN1 have been linked to a remarkably broad phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual disability, and hereditary motor neuropathy. Objectives We investigated…
View article: Biallelic <i>ADPRHL2</i> mutations in complex neuropathy affect ADP ribosylation and DNA damage response
Biallelic <i>ADPRHL2</i> mutations in complex neuropathy affect ADP ribosylation and DNA damage response Open
ADP ribosylation is a reversible posttranslational modification mediated by poly(ADP-ribose)transferases (e.g., PARP1) and (ADP-ribosyl)hydrolases (e.g., ARH3 and PARG), ensuring synthesis and removal of mono-ADP-ribose or poly-ADP-ribose …
View article: Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Open
The publisher apologizes for publishing an incorrect version of the article. This has been corrected.
View article: Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation Open
Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP). hnRNPA1 is part of the group of RNA-binding proteins (RBPs) that …
View article: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Open
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated…
View article: DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISM
DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISM Open
Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP). hnRNPA1 is part of the group of RNA-binding proteins (RBPs) that …
View article: The genetic landscape of axonal neuropathies in the middle-aged and elderly
The genetic landscape of axonal neuropathies in the middle-aged and elderly Open
A detectable fraction of unexplained late-onset axonal neuropathies is genetically determined, by variants in either CMT genes or genes involved in other conditions that affect the peripheral nerves and can mimic a CMT phenotype. MME
View article: De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation Open
View article: Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy Open
Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies hallmarked by a length-dependent axonal degeneration of lower motor neurons without significant involvement of sensory neurons. We identified pat…
View article: Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i> Open
This is the largest SPG7 cohort study to date and shows a spasticity-predominant phenotype of LOF variants and more frequent cerebellar ataxia and later onset in patients carrying at least 1 Ala510Val variant.
View article: FAHN/SPG35: a narrow phenotypic spectrum across disease classifications
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications Open
The endoplasmic reticulum enzyme fatty acid 2-hydroxylase (FA2H) plays a major role in the formation of 2-hydroxy glycosphingolipids, main components of myelin. FA2H deficiency in mice leads to severe central demyelination and axon loss. I…
View article: Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation Open
Background Spinocerebellar ataxia type 28 (SCA28) is a dominantly inherited neurodegenerative disease caused by pathogenic variants in AFG3L2. The AFG3L2 protein is a subunit of mitochondrial m -AAA complexes involved in protein quality co…
View article: Diagnostic implications of genetic copy number variation in epilepsy plus
Diagnostic implications of genetic copy number variation in epilepsy plus Open
Summary Objective Copy number variations ( CNV s) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the…
View article: Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish Open
View article: GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia Open
Autosomal recessive cerebellar ataxias are a group of rare disorders that share progressive degeneration of the cerebellum and associated tracts as the main hallmark. Here, we report two unrelated patients with a new subtype of autosomal r…
View article: De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function Open
View article: Extending the clinical and mutational spectrum of<i>TRIM32</i>-related myopathies in a non-Hutterite population
Extending the clinical and mutational spectrum of<i>TRIM32</i>-related myopathies in a non-Hutterite population Open
TRIM32 -related myopathies represent a phenotypic spectrum of a rare autosomal recessive muscle disorder. The disease is described as a mild and progressive myopathy without characteristic clinical features. Originally classified as limb-g…
View article: Truncating <i>SLC5A7</i> mutations underlie a spectrum of dominant hereditary motor neuropathies
Truncating <i>SLC5A7</i> mutations underlie a spectrum of dominant hereditary motor neuropathies Open
This study corroborates C-terminal CHT truncation as a cause of autosomal dominant dHMN, confirming upper limb predominating over lower limb involvement, and broadening the clinical spectrum arising from CHT malfunction.
View article: Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes
Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes Open
View article: Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial Open
Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. SPG5 is cau…
View article: STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations Open
View article: Complicated spastic paraplegia in patients with <i>AP5Z1</i> mutations (SPG48)
Complicated spastic paraplegia in patients with <i>AP5Z1</i> mutations (SPG48) Open
Our findings expand the spectrum of AP5Z1-associated neurodegenerative disorders and point to clinical and pathophysiologic overlap between autosomal recessive forms of HSP and lysosomal storage disorders.
View article: Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline Open
SYNJ1 encodes a polyphosphoinositide phosphatase, synaptojanin 1, which contains two consecutive phosphatase domains and plays a prominent role in synaptic vesicle dynamics. Autosomal recessive inherited variants in SYNJ1 have previously b…
View article: Multisystemic<i>SYNE1</i>ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum
Multisystemic<i>SYNE1</i>ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum Open
Sir,
We recently reported in Brain a large multi-centre study suggesting that truncating SYNE1 mutations are a recurrent cause of recessive ataxia also outside Quebec (23/434 = 5.3% of patients with unexplained early-onset ataxia) (Synofz…
View article: SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study Open
Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene have been reported to cause a relatively pure, slowly progressive cerebellar recessive ataxia mostly identified in Quebec, Canada. Combining next-generation sequencing techn…
View article: Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions Open
The most common form of autosomal recessive hereditary spastic paraplegia is caused by mutations in the SPG11/KIAA1840 gene on chromosome 15q. The nature of the vast majority of SPG11 mutations found to date suggests a loss-of-function mec…
View article: Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia Open
The epileptic encephalopathies are a clinically and aetiologically heterogeneous subgroup of epilepsy syndromes. Most epileptic encephalopathies have a genetic cause and patients are often found to carry a heterozygous de novo mutation in …
View article: First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy Open
We identified a de novo KCND3 mutation causing the most marked change in Kv4.3's channel properties reported so far, which correlated with a severe and unique spinocerebellar ataxia (SCA) type 19/22 disease phenotype.