Julian Blake
YOU?
Author Swipe
View article: <scp>ITPR1</scp> Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome
<span>ITPR1</span> Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome Open
Background Sensory ataxic neuropathies (SAN) are rare large fibre sensory neuropathies characterised by progressive sensory loss and ataxia. They may be inherited or acquired. When inherited they are more commonly seen as part of a broader…
View article: Heterozygous <i>PNPT1</i> Variants Cause a Sensory Ataxic Neuropathy
Heterozygous <i>PNPT1</i> Variants Cause a Sensory Ataxic Neuropathy Open
Background Biallelic variants in polyribonucleotide‐nucleotidyltransferase‐1 (PNPT1) have been associated with a range of phenotypes from syndromic hearing loss to Leigh's syndrome. More recently, heterozygous variants in PNPT1 , have been…
View article: Disease Progression in Charcot‐Marie‐Tooth Disease Type <scp>4B</scp> (<scp>CMT4B</scp>) Associated With Mutations in Myotubularin‐Related Proteins 2 and 13
Disease Progression in Charcot‐Marie‐Tooth Disease Type <span>4B</span> (<span>CMT4B</span>) Associated With Mutations in Myotubularin‐Related Proteins 2 and 13 Open
Background and Aims In 2019, we conducted a cross‐sectional study, collecting information on 50 patients with CMT4B, an ultrarare CMT subtype, to better define the clinical phenotype. We now aimed at investigating disease progression in 26…
View article: Recessive Variants in <scp><i>PIGG</i></scp> Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype
Recessive Variants in <span><i>PIGG</i></span> Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype Open
Biallelic variants in phosphatidylinositol glycan anchor biosynthesis, class G ( PIGG ) cause hypotonia, intellectual disability, seizures, and cerebellar features. We present 8 patients from 6 families with a childhood‐onset motor neuropa…
View article: A recurrent missense variant in <i>ITPR3</i> causes demyelinating Charcot-Marie-Tooth with variable severity
A recurrent missense variant in <i>ITPR3</i> causes demyelinating Charcot-Marie-Tooth with variable severity Open
Charcot-Marie-Tooth (CMT) disease is a neuromuscular disorder affecting the peripheral nervous system. The diagnostic yield in demyelinating CMT (CMT1) is typically ∼80%–95%, of which at least 60% is due to the PMP22 gene duplication. The …
View article: Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease Open
Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically heterogeneous inherited neurological diseases, with more than 130 disease-causing genes. Whole genome sequencing (WGS) has improved diagnosis across genetic diseas…
View article: Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type <scp>1A</scp>
Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type <span>1A</span> Open
Background and purpose Charcot−Marie−Tooth disease type 1A (CMT1A) is the most prevalent hereditary neuropathy worldwide and classically has slow nerve conduction velocity (NCV), in most cases below 38 m/s. Two unrelated patients with moto…
View article: Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts
Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts Open
Background and purpose Mutations in the alpha‐B‐crystallin ( CRYAB ) gene have initially been associated with myofibrillar myopathy, dilated cardiomyopathy and cataracts. For the first time, peripheral neuropathy is reported here as a nove…
View article: Post-transcriptional microRNA repression of <i>PMP22</i> dose in severe Charcot-Marie-Tooth disease type 1
Post-transcriptional microRNA repression of <i>PMP22</i> dose in severe Charcot-Marie-Tooth disease type 1 Open
Copy number variation (CNV) may lead to pathological traits, and Charcot-Marie-Tooth disease type 1A (CMT1A), the commonest inherited peripheral neuropathy, is due to a genomic duplication encompassing the dosage-sensitive PMP22 gene. Micr…
View article: Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants Open
Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It is an X-linked disorder characterized by progressive sensory and motor neuropathy with males affected more severely than females. Many…
View article: Charcot-Marie-Tooth disease type 2CC due to<i>NEFH</i>variants causes a progressive, non-length-dependent, motor-predominant phenotype
Charcot-Marie-Tooth disease type 2CC due to<i>NEFH</i>variants causes a progressive, non-length-dependent, motor-predominant phenotype Open
Objective Neurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants in NEFH have recently been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). Methods In this large observational…
View article: A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)
A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs) Open
Objective Charcot‐Marie‐Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All a…
View article: Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1 Open
Objectives Hereditary sensory neuropathy type 1 (HSN1) is a rare, slowly progressive neuropathy causing profound sensory deficits and often severe motor loss. L-serine supplementation is a possible candidate therapy but the lack of respons…
View article: IGHMBP2 mutation associated with organ-specific autonomic dysfunction
IGHMBP2 mutation associated with organ-specific autonomic dysfunction Open
View article: Sensory neuronopathy associated with cholangiocarcinoma diagnosed 6 years after symptom onset
Sensory neuronopathy associated with cholangiocarcinoma diagnosed 6 years after symptom onset Open
A pure sensory neuronopathy (also referred to as a sensory ganglionopathy) is one of a handful of classical neurological paraneoplastic syndromes. Current guidelines recommend that in cases of sensory neuronopathy, a search for an underlyi…
View article: A <i>de novo</i> dominant mutation in <i>KIF1A</i> associated with axonal neuropathy, spasticity and autism spectrum disorder
A <i>de novo</i> dominant mutation in <i>KIF1A</i> associated with axonal neuropathy, spasticity and autism spectrum disorder Open
Mutations in the kinesin family member 1A ( KIF1A ) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutati…
View article: Homozygous mutation in <i>HSPB1</i> causing distal vacuolar myopathy and motor neuropathy
Homozygous mutation in <i>HSPB1</i> causing distal vacuolar myopathy and motor neuropathy Open
A 57-year-old woman, born to parents of Gujarati Indian descent (figure, A), presented at age 19 with pain and stiffness in her calves and a tendency to trip. In her 20s, a formal neurologic examination demonstrated predominantly distal lo…
View article: Mutations in noncoding regions of <i>GJB1</i> are a major cause of X-linked CMT
Mutations in noncoding regions of <i>GJB1</i> are a major cause of X-linked CMT Open
Mutations in noncoding DNA are a major cause of CMTX1 and highlight the importance of mutations in noncoding DNA in human disease. Next-generation sequencing platforms for use in inherited neuropathy should therefore include coverage of th…
View article: Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene Open
View article: <i>SIGMAR1</i> mutation associated with autosomal recessive Silver-like syndrome
<i>SIGMAR1</i> mutation associated with autosomal recessive Silver-like syndrome Open
We suggest that coding sequence mutations in SIGMAR1 present clinically with a combination of dHMN and pyramidal tract signs, with or without spasticity, in the lower limbs. Preferential involvement of extensor muscles of the upper limbs m…
View article: Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy Open
View article: Reply: The p.Ser107Leu in<i>BICD2</i>is a mutation ‘hot spot’ causing distal spinal muscular atrophy
Reply: The p.Ser107Leu in<i>BICD2</i>is a mutation ‘hot spot’ causing distal spinal muscular atrophy Open
Sir,
Thank you for the opportunity to reply to the correspondence concerning our recent publication in Brain , ‘Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2’ (Rossor et al. , 2015). We read with…
View article: Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity
Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity Open