Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations

Erichsen, Anne Kjersti; Server, Andrés; Landrø, Nils Inge; Sandvik, L.; Tallaksen, Chantal

doi:10.1016/j.jns.2008.10.030

Cited by 16 publications

(18 citation statements)

References 32 publications

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“…In our series, only one patient presented with a deficit of semantic memory and one patient presented with apraxia while it is frequently reported in other studies [ 2 , 5 – 7 , 10 ]. In addition, the high frequency of attention deficit and executive impairment (resp., 100% and 89%) is more substantial than expected from the literature [ 2 , 4 – 7 ]. This difference might be explained by the small sample with only 4 different mutations and 5 patients (family A) out of 9 carrying the same mutation in our series, while clinical heterogeneity, due to the genetic heterogeneity with mutations in more than 70 loci, is frequently reported in SPG4 population.…”

Section: Discussionsupporting

confidence: 62%

“…No dementia, intellectual disability, language disorders, or information processing speed impairment was observed in our series whereas those phenotypes are frequently reported in the literature [ 3 – 7 ]. In our series, only one patient presented with a deficit of semantic memory and one patient presented with apraxia while it is frequently reported in other studies [ 2 , 5 – 7 , 10 ]. In addition, the high frequency of attention deficit and executive impairment (resp., 100% and 89%) is more substantial than expected from the literature [ 2 , 4 – 7 ].…”

Section: Discussioncontrasting

confidence: 46%

“…All our patients presented with cognitive impairment fulfilling multidomain nonamnesic mild cognitive impairment (MCI) criteria [ 19 , 20 ], while cognitive impairment is usually reported as frequent but inconstant [ 7 ]. As the mean MMSE score was 26.6 and 2 patients with a score of 30 presented nevertheless with multiple cognitive domain impairments, the MMSE seems to be insufficiently sensitive to screen cognitive impairment in this population.…”

Section: Discussionmentioning

confidence: 99%

“…Most of these studies used a global cognitive efficiency test such as mini-mental state examination (MMSE), Mattis dementia rating scale, short test of mental status (STMS), Cambridge cognitive examination (CAMCOG), and Wechsler adult intelligence scale (WAIS) [ 4 , 5 ]. However, some studies used more exhaustive neuropsychological assessments [ 6 , 7 ]. Executive functions and verbal episodic, face recognition, and short term and working memories are frequently impaired.…”

Section: Introductionmentioning

confidence: 99%

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Cognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia

Chamard

Ferreira

Pijoff³

et al. 2016

Behavioural Neurology

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Objectives. To describe cognitive assessment including social cognition in SPG4 patients. Methods. We reported a series of nine patients with SPG4 mutation with an extensive neuropsychological examination including social cognition assessment. Results. None of our patients presented with mental retardation or dementia. All presented with mild cognitive impairment with a high frequency of attention deficit (100%), executive disorders (89%), and social cognition impairment (78%). An asymptomatic patient for motor skills presented with the same cognitive profile. No correlation was found in this small sample between cognitive impairment and motor impairment, age at disease onset, or disease duration. Conclusions. SPG4 phenotypes share some cognitive features of frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Cognitive disorders including executive disorders and social cognition impairment are frequent in SPG4 patients and might sometimes occur before motor disorders. Therefore, cognitive functions including social cognition should be systematically assessed in order to improve the clinical management of this population.

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Section: Discussionsupporting

confidence: 62%

Section: Discussioncontrasting

confidence: 46%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Cognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia

Chamard

Ferreira

Pijoff³

et al. 2016

Behavioural Neurology

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“…Decline in several brain chemicals including NAA is a reliable measure of neurodegeneration [31,32] . Accordingly, we monitored several brain chemicals in Ppt1 -KO mice from MR spectra ( fig.…”

Section: Mr Spectral Analysismentioning

confidence: 99%

Evaluation of Neurodegeneration in a Mouse Model of Infantile Batten Disease by Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy

Munasinghe

Zhang²,

Kong³

et al. 2012

Neurodegener Dis

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Neuronal ceroid lipofuscinoses (NCLs) represent a group of common hereditary childhood neurodegenerative storage disorders that have no effective treatment. Mutations in eight different genes cause various forms of NCLs. Infantile NCL (INCL), the most lethal disease, is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. The availability of Ppt1-knockout (Ppt1-KO) mice, which recapitulate virtually all clinical and pathological features of INCL, provides an opportunity to test the effectiveness of novel therapeutic strategies in vivo. However, such studies will require noninvasive methods that can be used to perform serial evaluations of the same animal receiving an experimental therapy. Thus, the development of noninvasive method(s) of evaluation is urgently needed. Here, we report our evaluation of the progression of neurodegeneration in Ppt1-KO mice starting at 3 months of age by MRI and MR spectroscopy (MRS) and repeating these tests using the same mice at 4, 5 and 6 months of age. Our results showed progressive cerebral atrophy, which was associated with histological loss of neuronal content and increase in astroglia. Remarkably, while the brain volumes in Ppt1-KO mice progressively declined with advancing age, the MRS signals, which were significantly lower than those of their wild-type littermates, remained virtually unchanged from 3 to 6 months of age. In addition, our results also showed an abnormality in cerebral blood flow in these mice, which showed progression with age. Our findings provide methods to serially examine the brains of mouse models of neurodegenerative diseases (e.g. Ppt1-KO mice) using noninvasive and nonlethal procedures such as MRI and MRS. These methods may be useful in studies to understand the progression of neuropathology in animal models of neurodegenerative diseases as they allow repeated evaluations of the same animal in which experimental therapies are tested.

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Thalamic metabolic alterations with cognitive dysfunction in idiopathic trigeminal neuralgia: a multivoxel spectroscopy study

Wang

Bao

et al. 2014

Neuroradiology

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Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations

Cited by 16 publications

References 32 publications

Cognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia

Cognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia

Evaluation of Neurodegeneration in a Mouse Model of Infantile Batten Disease by Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy

Thalamic metabolic alterations with cognitive dysfunction in idiopathic trigeminal neuralgia: a multivoxel spectroscopy study

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