FEVER, ACUTE HEMIPARESIS, APHASIA, STATUS EPILEPTICUS, PSYCHOSIS… MIGRAINE?

2015 ◽  
Vol 86 (11) ◽  
pp. e4.165-e4
Author(s):  
Tom Massey ◽  
Marguerite Hill ◽  
Shaheena Sadiq ◽  
Rachel Smith
Keyword(s):  
Status Epilepticus ◽  
Left Hemisphere ◽  
Cerebellar Atrophy ◽  
Familial Hemiplegic Migraine ◽  
Young Female ◽  
Type I ◽  
Hemiplegic Migraine ◽  
Brain Scans ◽  
Delta Waves ◽  
Cerebral Vasoconstriction

A young female patient, who was otherwise well, presented with acute hemiparesis, dysphasia and confusion after a night out in town. She was febrile and developed focal motor seizures that were difficult to control, culminating in secondary generalisation and status epilepticus. She required intubation and ventilation on ITU. Blood and CSF testing revealed no evidence of infection, drugs, or toxins. MRI brain scans and angiography showed subtle left hemisphere swelling associated with cerebral vasoconstriction, and a degree of cerebellar atrophy. EEG found delta waves over the left hemisphere. After extubation the patient developed delusional and paranoid thoughts about the medical team. All symptoms resolved rapidly after treatment with steroids and three anticonvulsants, and the patient recovered to baseline. The underlying diagnosis proved to be a rare variant of Familial Hemiplegic Migraine type I (CACNA1A I1709T) of which there are two previous reports in the literature, and which seems to have a characteristically severe phenotype.

scholarly journals The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Maria A. Gandini ◽  
Ivana A. Souza ◽  
Laurent Ferron ◽  
A. Micheil Innes ◽  
Gerald W. Zamponi
Keyword(s):  
Developmental Delay ◽  
Early Onset ◽  
Structural Damage ◽  
De Novo ◽  
Splice Variants ◽  
Cerebellar Atrophy ◽  
Familial Hemiplegic Migraine ◽  
Significant Loss ◽  
Loss Of Function ◽  
Hemiplegic Migraine

AbstractCACNA1A pathogenic variants have been linked to several neurological disorders including familial hemiplegic migraine and cerebellar conditions. More recently, de novo variants have been associated with severe early onset developmental encephalopathies. CACNA1A is highly expressed in the central nervous system and encodes the pore-forming CaVα1 subunit of P/Q-type (Cav2.1) calcium channels. We have previously identified a patient with a de novo missense mutation in CACNA1A (p.Y1384C), characterized by hemiplegic migraine, cerebellar atrophy and developmental delay. The mutation is located at the transmembrane S5 segment of the third domain. Functional analysis in two predominant splice variants of the neuronal Cav2.1 channel showed a significant loss of function in current density and changes in gating properties. Moreover, Y1384 variants exhibit differential splice variant-specific effects on recovery from inactivation. Finally, structural analysis revealed structural damage caused by the tyrosine substitution and changes in electrostatic potentials.

scholarly journals Familial Hemiplegic Migraine with Prolonged Coma and Cerebellar Atrophy: CACNA1A T666M Mutation in a Korean Family

2012 ◽  
Vol 27 (9) ◽  
pp. 1124 ◽  
Author(s):  
Kyung-Ho Choi ◽  
Jang Su Kim ◽  
Seo-Young Lee ◽  
Suk-won Ryu ◽  
Sam Su Kim ◽  
...  
Keyword(s):  
Cerebellar Atrophy ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Korean Family ◽  
Prolonged Coma

New CACNA1A Gene Mutation in a Case of Familial Hemiplegic Migraine with Status epilepticus

2004 ◽  
Vol 52 (1) ◽  
pp. 58-61 ◽  
Author(s):  
Katell Beauvais ◽  
Florence Cavé-Riant ◽  
Claire De Barace ◽  
Marc Tardieu ◽  
Elisabeth Tournier-Lasserve ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Gene Mutation ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Cacna1a Gene

Autopsy case of acute encephalopathy linked to familial hemiplegic migraine with cerebellar atrophy and mental retardation

2005 ◽  
Vol 25 (3) ◽  
pp. 228-234 ◽  
Author(s):  
Tatsuya Takahashi ◽  
Nobutaka Arai ◽  
Megumi Shimamura ◽  
Yume Suzuki ◽  
Sumimasa Yamashita ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cerebellar Atrophy ◽  
Familial Hemiplegic Migraine ◽  
Autopsy Case ◽  
Acute Encephalopathy ◽  
Hemiplegic Migraine

scholarly journals Basal astrocyte and microglia activation in the central nervous system of Familial Hemiplegic Migraine Type I mice

Cephalalgia ◽  
2019 ◽  
Vol 39 (14) ◽  
pp. 1809-1817 ◽  
Author(s):  
Giulia Magni ◽  
Marta Boccazzi ◽  
Antonella Bodini ◽  
Maria P Abbracchio ◽  
Arn MJM van den Maagdenberg ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Glial Cells ◽  
Familial Hemiplegic Migraine ◽  
Microglia Activation ◽  
Mutant Mice ◽  
Type I ◽  
Missense Mutations ◽  
Hemiplegic Migraine ◽  
The Central Nervous System

Background Gain-of-function missense mutations in the α1A subunit of neuronal CaV2.1 channels, which define Familial Hemiplegic Migraine Type 1 (FHM1), result in enhanced cortical glutamatergic transmission and a higher susceptibility to cortical spreading depolarization. It is now well established that neurons signal to surrounding glial cells, namely astrocytes and microglia, in the central nervous system, which in turn become activated and in pathological conditions can sustain neuroinflammation. We and others previously demonstrated an increased activation of pro-algogenic pathways, paralleled by augmented macrophage infiltration, in both isolated trigeminal ganglia and mixed trigeminal ganglion neuron-satellite glial cell cultures of FHM1 mutant mice. Hence, we hypothesize that astrocyte and microglia activation may occur in parallel in the central nervous system. Methods We have evaluated signs of reactive glia in brains from naïve FHM1 mutant mice in comparison with wild type animals by immunohistochemistry and Western blotting. Results Here we show for the first time signs of reactive astrogliosis and microglia activation in the naïve FHM1 mutant mouse brain. Conclusions Our data reinforce the involvement of glial cells in migraine, and suggest that modulating such activation may represent an innovative approach to reduce pathology.

scholarly journals Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family

2017 ◽  
Vol 11 ◽  
Author(s):  
Svetlana F. Khaiboullina ◽  
Elena G. Mendelevich ◽  
Leyla H. Shigapova ◽  
Elena Shagimardanova ◽  
Guzel Gazizova ◽  
...  
Keyword(s):  
Cerebellar Atrophy ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine

Familial hemiplegic migraine, nystagmus, and cerebellar atrophy

1996 ◽  
Vol 39 (1) ◽  
pp. 100-106 ◽  
Author(s):  
Michael A. Elliott ◽  
S. J. Peroutka ◽  
S. Welch ◽  
Eugene F. May
Keyword(s):  
Cerebellar Atrophy ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine

scholarly journals CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Marina Romozzi ◽  
Guido Primiano ◽  
Eleonora Rollo ◽  
Lorena Travaglini ◽  
Paolo Calabresi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Cerebellar Atrophy ◽  
Familial Hemiplegic Migraine ◽  
Autosomal Dominant Disorder ◽  
Hemiplegic Migraine ◽  
Rare Form ◽  
Targeted Capture ◽  
Cerebellar Involvement ◽  
Cerebellar Symptoms

Abstract Background and aims Hemiplegic migraine (HM) is a rare form of migraine characterized by the presence of a motor and other types of aura. HM can be sporadic or familial. Familial hemiplegic migraine (FHM) is an autosomal dominant disorder, classified into 3 subtypes, based on the gene involved (CACNA1A in FHM1, ATP1A2 in FHM2 and SCN1A in FHM3). The clinical presentation is highly heterogeneous and some attacks may be severe. We report the clinical characteristics and genetic analysis of 12 patients belonging to a family with CACNA1A-p.Thr501Met gene mutation. Methods We screened for mutations in CACNA1A gene 15 patients belonging to the same family. The exonic sequences of CACNA1A were analyzed using a Tru-seq® Custom Amplicon (TSCA) (Illumina Inc., San Diego, CA) targeted capture and paired end library kit. Sanger sequencing was used to confirm CACNA1A variants and segregation analysis. Results CACNA1A-p.Thr501Met mutation was found in 12 of the 15 patients screened, which was compatible with the diagnosis of FHM1. Attacks of hemiplegic migraine were reported by 10 of the 12 subjects (83.33%). Only one subject developed persistent mild cerebellar symptoms and none of the subjects developed cerebellar atrophy. Discussion The variant p.Thr501Met was described previously in association with episodic ataxia and rarely with FHM related to cerebellar symptoms. FHM1 has a broad clinical spectrum and about half of the families have cerebellar involvement. In our study, only one patient developed persistent cerebellar deficits. These data suggest that CACNA1A-p.Thr501Met mutation can occur prevalently as hemiplegic migraine.

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