rare but interesting
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Neurology 2001 Apr 10;56(7):849-55
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.
Musumeci O, Naini A, Slonim AE, Skavin N, Hadjigeorgiou GL, Krawiecki N,
Weissman BM, Tsao CY, Mendell JR, Shanske S, De Vivo DC, Hirano M, DiMauro S.
Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and
DiMauro), Columbia University College of Physicians and Surgeons, New York, NY.
OBJECTIVE: To describe a clinical syndrome of cerebellar ataxia associated with
muscle coenzyme Q10 (CoQ10) deficiency. BACKGROUND: Muscle CoQ10 deficiency has
been reported only in a few patients with a mitochondrial encephalomyopathy
characterized by 1) recurrent myoglobinuria; 2) brain involvement (seizures,
ataxia, mental retardation), and 3) ragged-red fibers and lipid storage in the
muscle biopsy. METHODS: Having found decreased CoQ10 levels in muscle from a
patient with unclassified familial cerebellar ataxia, the authors measured CoQ10
in muscle biopsies from other patients in whom cerebellar ataxia could not be
attributed to known genetic causes. RESULTS: The authors found muscle CoQ10
deficiency (26 to 35% of normal) in six patients with cerebellar ataxia,
pyramidal signs, and seizures. All six patients responded to CoQ10
supplementation; strength increased, ataxia improved, and seizures became less
frequent. CONCLUSIONS: Primary CoQ10 deficiency is a potentially important cause
of familial ataxia and should be considered in the differential diagnosis of
this condition because CoQ10 administration seems to improve the clinical
picture.
PMID: 11294920 [PubMed - in process]
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Ray Strand
Prairie Sky Design
-----------------( on the Edge of the Prairie Abyss )---------------
when the sky is clear
the ground is visible
49/dx PD 2 yrs/40? onset/retired
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