Ataxia with ocular apraxia type 2 not responding to 4-aminopyridine: A rare mutation in the &lt;i&gt;SETX&lt;/i&gt; gene in a Saudi patient

Algahtani, Hussein; Shirah, Bader; Algahtani, Raghad; Naseer, Muhammad Imran; Al-Qahtani, Mohammad H.; Abdulkareem, Angham Abdulrahman

doi:10.5582/irdr.2018.01107

Cited by 4 publications

(6 citation statements)

References 23 publications

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“…Data analysis of Families G, H, and I revealed previously reported variants FA2H: c.159_176del (p.53_58del), APTX: c.689T>G (p.Val230Gly), and SETX: c.5308_5311del (p.Glu1770fs), respectively [17][18][19][20] (Figures Figure 2 and S3). According to ACMG guidelines, all variants are classified as either pathogenic or likely pathogenic except the ALS2 variants, which are classified as variants of uncertain significance (VUS).…”

Section: Molecular Findingsmentioning

confidence: 73%

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

Saadi,

Cali,

Khalid

et al. 2023

Genes

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Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, skeletal/muscular and ocular abnormalities. The objective of the present study is to identify the underlying genetic causes of the rare spinocerebellar disorders in the Pakistani population. Herein, nine consanguineous families presenting different spinocerebellar phenotypes have been investigated using whole exome sequencing. Sanger sequencing was performed for segregation analysis in all the available individuals of each family. The molecular analysis of these families identified six novel pathogenic/likely pathogenic variants; ZFYVE26: c.1093del, SACS: c.1201C>T, BICD2: c.2156A>T, ALS2: c.2171-3T>G, ALS2: c.3145T>A, and B4GALNT1: c.334_335dup, and three already reported pathogenic variants; FA2H: c.159_176del, APTX: c.689T>G, and SETX: c.5308_5311del. The clinical features of all patients in each family are concurrent with the already reported cases. Hence, the current study expands the mutation spectrum of rare spinocerebellar disorders and implies the usefulness of next-generation sequencing in combination with clinical investigation for better diagnosis of these overlapping phenotypes.

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Section: Molecular Findingsmentioning

confidence: 73%

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

Saadi,

Cali,

Khalid

et al. 2023

Genes

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“…It is important to educate the Saudi population about this fact to hopefully reduce the occurrence of rare and devastating diseases. We have previously reported several novel and rare mutations causing a wide variety of genetic neurological diseases in the Saudi community (16)(17)(18)(19)(20)(21)(22)(23)(24). This paper may be considered as an urgent call for action to address the consanguinity issue in Saudi Arabia.…”

Section: Discussionmentioning

confidence: 90%

“…We have recently reported our experience in the use of 4-aminopyridine in a patient with a rare hereditary ataxia with no response. This indicates that the management of patients with hereditary ataxias remains challenging (16).…”

Section: Discussionmentioning

confidence: 99%

A novel mutation in <i>CACNA1A</i> gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine

Algahtani

Shirah

Algahtani

et al. 2019

IRDR

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“…Senataxin mutations are also associated with ataxia with oculomotor apraxia type 2 (AOA2) [ 27 , 28 , 29 ]. This autosomal recessive disorder is characterized by cerebellar ataxia, oculomotor apraxia, axonal sensorimotor neuropathy, and elevated serum α-fetoprotein.…”

Section: Resultsmentioning

confidence: 99%

“…Spatacsin may function in the maintenance of cytoskeleton stability and regulation of synaptic vesicle transport. The age of onset for SPG11-JALS ranges from 7 to 23 years, with onset most commonly in the second decade and a disease duration of 34.3 years (range of [27][28][29][30][31][32][33][34][35][36][37][38][39][40]. The clinical presentation begins with distal LMN upper or lower extremity weakness combined with UMN signs.…”

Section: Spatacsin (Spg11)mentioning

confidence: 99%

Juvenile Amyotrophic Lateral Sclerosis: A Review

Lehky

2021

Genes

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Juvenile amyotrophic lateral sclerosis (JALS) is a rare group of motor neuron disorders with gene association in 40% of cases. JALS is defined as onset before age 25. We conducted a literature review of JALS and gene mutations associated with JALS. Results of the literature review show that the most common gene mutations associated with JALS are FUS, SETX, and ALS2. In familial cases, the gene mutations are mostly inherited in an autosomal recessive pattern and mutations in SETX are inherited in an autosomal dominant fashion. Disease prognosis varies from rapidly progressive to an indolent course. Distinct clinical features may emerge with specific gene mutations in addition to the clinical finding of combined upper and lower motor neuron degeneration. In conclusion, patients presenting with combined upper and lower motor neuron disorders before age 25 should be carefully examined for genetic mutations. Hereditary patterns and coexisting features may be useful in determining prognosis.

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Ataxia with ocular apraxia type 2 not responding to 4-aminopyridine: A rare mutation in the <i>SETX</i> gene in a Saudi patient

Cited by 4 publications

References 23 publications

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

A novel mutation in <i>CACNA1A</i> gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine

Juvenile Amyotrophic Lateral Sclerosis: A Review

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