Mehrdad A. Estiar
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View article: Loss‐of‐Function Variants in <scp> <i>CPT1C</i> </scp> : No Support for a Causal Role in Hereditary Spastic Paraplegia
Loss‐of‐Function Variants in <span> <i>CPT1C</i> </span> : No Support for a Causal Role in Hereditary Spastic Paraplegia Open
Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether …
View article: Loss-of-function Variants in <i>CPT1C</i>: No Support for a Causal Role in Hereditary Spastic Paraplegia
Loss-of-function Variants in <i>CPT1C</i>: No Support for a Causal Role in Hereditary Spastic Paraplegia Open
Background: Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective: To assess if CPT1C loss-of-function (LOF) varian…
View article: Digenic inheritance of mutations in <i>SPG7</i> and <i>AFG3L2</i> causes motor neuron and cerebellar disorders
Digenic inheritance of mutations in <i>SPG7</i> and <i>AFG3L2</i> causes motor neuron and cerebellar disorders Open
Background Biallelic SPG7 mutations cause one of the most common forms of hereditary spastic paraplegia (HSP). Several reports have suggested that heterozygous SPG7 variants may also play a role in HSP, but also in amyotrophic lateral scle…
View article: Hereditary Spastic Paraplegia in Alberta: Lessons from a Well‐Defined Cohort Including the Indigenous Population
Hereditary Spastic Paraplegia in Alberta: Lessons from a Well‐Defined Cohort Including the Indigenous Population Open
Background Hereditary spastic paraplegias (HSP) are rare disorders sharing common features of leg spasticity with gait impairment. Simple and complex forms are recognized; over 50% of cases remain unsolved genetically. Little is known abou…
View article: EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration Open
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allel…
View article: From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic <scp><i>SPAST</i></scp> variants
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic <span><i>SPAST</i></span> variants Open
Purpose Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. Howe…
View article: Lack of Epistatic Interaction of<i>SNCA</i>with<i>APOE</i>in Synucleinopathies
Lack of Epistatic Interaction of<i>SNCA</i>with<i>APOE</i>in Synucleinopathies Open
Two recent studies suggested that the APOE ε4 haplotype was associated with increased α-synuclein pathology in cell and mouse models. Genetic variants in the SNCA region have strong association with Parkinson’s disease (PD), Dementia with …
View article: Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects Open
View article: TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions Open
View article: Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders Open
SARM1, a protein with critical NADase activity, is a central executioner in a conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human SARM1 variant alleles in patients with amyotrophic latera…
View article: RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian Disorder
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian Disorder Open
Rabenosyn (RBSN) is a conserved endosomal protein necessary for regulating internalized cargo. Here, we present genetic, cellular and biochemical evidence that two distinct RBSN missense variants are responsible for a novel Mendelian disor…
View article: Fine mapping of the HLA locus in Parkinson’s disease in Europeans
Fine mapping of the HLA locus in Parkinson’s disease in Europeans Open
View article: Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects
Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects Open
Rapid eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom of alpha-synucleinopathies. RBD also defines more severe forms of alpha-synucleinopathies. The genetic background of…
View article: Author response: Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders
Author response: Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders Open
View article: Genetic, structural and clinical analysis of spastic paraplegia 4
Genetic, structural and clinical analysis of spastic paraplegia 4 Open
Introduction Spastic paraplegia type 4 (SPG4), resulting from heterozygous mutations in the SPAST gene, is the most common form among the heterogeneous group of hereditary spastic paraplegias (HSPs). We aimed to study genetic and clinical …
View article: Rare <i>PSAP</i> variants and possible interaction with <i>GBA</i> in REM sleep behavior disorder
Rare <i>PSAP</i> variants and possible interaction with <i>GBA</i> in REM sleep behavior disorder Open
PSAP encodes saposin C, the co-activator of glucocerebrosidase, encoded by GBA . Since GBA mutations are associated with idiopathic/isolated REM sleep behavior disorder (iRBD), a prodromal stage of synucleinopathy, we examined the role of …
View article: Enrichment of <i>SARM1</i> alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders
Enrichment of <i>SARM1</i> alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders Open
SARM1, a protein with critical NADase activity, is a central executioner in a conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human SARM1 variant alleles in patients with amyotrophic latera…
View article: Lack of Causal Effects or Genetic Correlation between Restless Legs Syndrome and Parkinson's Disease
Lack of Causal Effects or Genetic Correlation between Restless Legs Syndrome and Parkinson's Disease Open
Background Epidemiological studies have reported an association between Parkinson's disease (PD) and restless legs syndrome. Objectives We aimed to use genetic data to study whether these 2 disorders are causally linked or share genetic ar…
View article: Author response for "GCH1 mutations in hereditary spastic paraplegia"
Author response for "GCH1 mutations in hereditary spastic paraplegia" Open
View article: Lack of Causal Effects or Genetic Correlation between Restless Legs Syndrome and Parkinson’s Disease
Lack of Causal Effects or Genetic Correlation between Restless Legs Syndrome and Parkinson’s Disease Open
Background Epidemiological studies have reported association between Parkinson’s disease (PD) and restless legs syndrome (RLS). Objectives We aimed to use genetic data to study whether these two disorders are causally linked or share genet…
View article: <i>GCH1</i>mutations in hereditary spastic paraplegia
<i>GCH1</i>mutations in hereditary spastic paraplegia Open
GCH1 mutations have been associated with dopa-responsive dystonia (DRD), Parkinson’s disease (PD) and tetrahydrobiopterin (BH 4 )-deficient hyperphenylalaninemia B. Recently, GCH1 mutations have been reported in five patients with heredita…
View article: Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec
Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec Open
Objective: To estimate the minimum prevalence of adult hereditary ataxias (HA) and spastic paraplegias (HSP) in Eastern Quebec and to evaluate the proportion of associated mutations in identified genes. Methods: We conducted a descriptive …
View article: Hereditary spastic paraplegia initially diagnosed as cerebral palsy
Hereditary spastic paraplegia initially diagnosed as cerebral palsy Open
In our cohort, 70% of HSP children presenting with spasticity under 3 years had been misdiagnosed with CP. In a young child presenting with spastic diplegia without clear history of prematurity, intrauterine growth restriction, infection o…
View article: Fine mapping of the <i>HLA</i> locus in Parkinson’s disease in Europeans
Fine mapping of the <i>HLA</i> locus in Parkinson’s disease in Europeans Open
Objective To fine map the association between human leukocyte antigen ( HLA) genes and Parkinson’s disease (PD) that was discovered using genome-wide association studies (GWASs). Methods We performed a thorough analysis of the HLA locus in…
View article: Evidence for non-Mendelian inheritance in spastic paraplegia 7
Evidence for non-Mendelian inheritance in spastic paraplegia 7 Open
Hereditary spastic paraplegia is a group of rare motor neuron diseases considered to be inherited in a classical monogenic Mendelian manner. Although the typical inheritance of spastic paraplegia type 7 is autosomal recessive, several repo…
View article: Assessing non-Mendelian inheritance in inherited axonopathies
Assessing non-Mendelian inheritance in inherited axonopathies Open
View article: Analysis of heterozygous <i>PRKN</i> variants and copy number variations in Parkinson’s disease
Analysis of heterozygous <i>PRKN</i> variants and copy number variations in Parkinson’s disease Open
Background Biallelic PRKN mutation carriers with Parkinson’s disease (PD) typically have an earlier disease onset, slow disease progression and, often, different neuropathology compared to sporadic PD patients. However, the role of heteroz…
View article: Clinical and genetic analysis of <i>ATP13A2</i> in hereditary spastic paraplegia expands the phenotype
Clinical and genetic analysis of <i>ATP13A2</i> in hereditary spastic paraplegia expands the phenotype Open
Background Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness, with or without additional symptoms. Mutations in ATP13A2, known to cause Kufor–Rakeb syndrome (KRS), have…
View article: SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia
SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia Open
View article: Deregulated expression of HDAC3 in colorectal cancer and its clinical significance
Deregulated expression of HDAC3 in colorectal cancer and its clinical significance Open
In this prospective study we identified a pronounced HDAC3 expression pattern in CRC. Our findings support an important role of HDAC3 as a complementary molecular marker for existing histopathological diagnostic elements; it might also hav…