ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies

2021 ◽  
Author(s):  
Gabrielle Lemire ◽  
Yoko A. Ito ◽  
Aren E. Marshall ◽  
Nicolas Chrestian ◽  
Valentina Stanley ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Complicated Form ◽  
Cerebral Anomalies

scholarly journals Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia

2020 ◽  
Vol 6 (5) ◽  
pp. e514
Author(s):  
Yasuko Odake ◽  
Kishin Koh ◽  
Yoshihisa Takiyama ◽  
Hiroyuki Ishiura ◽  
Shoji Tsuji ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Sequence Analysis ◽  
Hereditary Spastic Paraplegia ◽  
Psychiatric Symptoms ◽  
Spastic Paraparesis ◽  
Spastic Paraplegia ◽  
Caudate Nuclei ◽  
Extrapyramidal Signs ◽  
Complicated Form ◽  
Exome Sequence

ObjectiveTo establish molecular diagnosis for a family with a complicated form of autosomal recessive hereditary spastic paraplegia with intellectual disability, cognitive decline, psychosis, peripheral neuropathy, upward gaze palsy, and thin corpus callosum (TCC).MethodsPhysical examinations, laboratory tests, structural neuroimaging studies, and exome sequence analysis were carried out.ResultsThe 3 patients exhibited intellectual disability and progressive intellectual decline accompanied by psychiatric symptoms. Gait difficulty with spasticity and pyramidal weakness appeared at the ages of 20s–30s. Brain MRI revealed TCC with atrophic changes in the frontotemporal lobes, caudate nuclei, and cerebellum. Exome sequence analysis revealed a novel homozygous c.2654C>A (p. Ala885Asp) variant in the ATP13A2, a gene responsible for a complicated form of hereditary spastic paraplegia (SPG78), Kufor-Rakeb syndrome, and neuronal ceroid lipofuscinosis. The predominant clinical presentations of the patients include progressive intellectual disability and gait difficulty with spasticity and pyramidal weakness, consistent with the diagnosis of SPG78. Of note, prominent psychiatric symptoms and extrapyramidal signs including rigidity, dystonia, and involuntary movements preceded the spastic paraparesis.ConclusionsOur study further broadens the clinical spectrum associated with ATP13A2 mutations.

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

2010 ◽  
Vol 31 (4) ◽  
pp. E1251-E1260 ◽  
Author(s):  
Katherine J. Dick ◽  
Matthias Eckhardt ◽  
Coro Paisán-Ruiz ◽  
Aisha Alkhayat Alshehhi ◽  
Christos Proukakis ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Complicated Form

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia

2018 ◽  
Vol 64 (1) ◽  
pp. 55-59 ◽  
Author(s):  
Kishin Koh ◽  
◽  
Yuta Ichinose ◽  
Hiroyuki Ishiura ◽  
Haitian Nan ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Complicated Form

scholarly journals Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

2015 ◽  
Vol 8 (1) ◽  
Author(s):  
Nuha Alrayes ◽  
Hussein Sheikh Ali Mohamoud ◽  
Musharraf Jelani ◽  
Saleem Ahmad ◽  
Nirmal Vadgama ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Phospholipase A1 ◽  
Truncating Mutation

scholarly journals Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia

2003 ◽  
Vol 73 (5) ◽  
pp. 1147-1156 ◽  
Author(s):  
Michael A. Simpson ◽  
Harold Cross ◽  
Christos Proukakis ◽  
Anna Pryde ◽  
Ruth Hershberger ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Complicated Form

scholarly journals Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

2020 ◽  
Vol 11 ◽  
Author(s):  
Sergio Aguilera-Albesa ◽  
Ana Belén de la Hoz ◽  
Nekane Ibarluzea ◽  
Andrés R. Ordóñez-Castillo ◽  
Olivia Busto-Crespo ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia

2015 ◽  
Vol 58 (11) ◽  
pp. 573-577 ◽  
Author(s):  
Hussein Daoud ◽  
Eleni Merkouri Papadima ◽  
Bouchra Ouled Amar Bencheikh ◽  
Theodora Katsila ◽  
Alexandre Dionne-Laporte ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Whole Exome ◽  
Complicated Form

scholarly journals Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia

2018 ◽  
Vol 64 (1) ◽  
pp. 61-63 ◽  
Author(s):  
Kishin Koh ◽  
◽  
Yuta Ichinose ◽  
Hiroyuki Ishiura ◽  
Haitian Nan ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Complicated Form
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